Gene Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, variants, or PubMed publications.

Have questions, comments or suggestions? - Let us know!

Email us at : ckbsupport@jax.org

Gene Symbol ERBB2
Synonyms CD340 | HER-2 | HER-2/neu | HER2 | MLN 19 | NEU | NGL | TKR1
Gene Description ERBB2 (HER2), erb-b2 receptor tyrosine kinase 2, is an EGFR receptor tyrosine kinase that activates PI3K-AKT-mTOR and RAS-RAF-MEK-ERK pathways, therefore regulating growth and transformation (PMID: 17471238). ERBB2 (HER2) amplification and/or overexpression, and activation has been implicated in several tumor types (PMID: 17471238, PMID: 31019892), and is commonly observed in breast cancer (PMID: 31650186, PMID: 32161378), while some ERBB2 mutations have been implicated in resistance to select tyrosine kinase inhibitors (PMID: 32327210).

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Variant Impact Protein Effect Variant Description Associated with drug Resistance
A1039T missense no effect - predicted ERBB2 (HER2) A1039T lies within the cytoplasmic domain of the Erbb2 (Her2) protein (UniProt.org). A1039T does not lead to transformation of cells in culture (PMID: 29967253), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
A1216D missense no effect - predicted ERBB2 (HER2) A1216D lies within the cytoplasmic domain of the Erbb2 (Her2) protein (UniProt.org). A1216D has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Erbb2 (Her2) in culture (PMID: 29533785), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
A1232fs frameshift unknown ERBB2 (HER2) A1232fs results in a change in the amino acid sequence of the Erbb2 (Her2) protein beginning at aa 1232 of 1255, likely resulting in premature truncation of the functional protein (UniProt.org). The functional effect of A1232fs is conflicting, as it demonstrates transformation of cells in one cell line, however, does not lead to transformation in another cell line in culture (PMID: 29967253), and therefore, its effect on Erbb2 (Her2) protein function is unknown.
A241V missense no effect - predicted ERBB2 (HER2) A241V lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). A241V does not lead to growth advantage or transformation of cells in culture (PMID: 29967253), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
A293T missense no effect - predicted ERBB2 (HER2) A293T lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). A293T has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Erbb2 (Her2) in culture (PMID: 29533785), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
A386D missense unknown ERBB2 (HER2) A386D lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). A386D has been identified in the scientific literature (PMID: 31752449), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Dec 2020).
A440T missense unknown ERBB2 (HER2) A440T lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). A440T induces increased cell proliferation and cell viability as compared to wild-type Erbb2 (Her2) in one of two different cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
A466V missense gain of function - predicted ERBB2 (HER2) A466V lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). A466V results in increased Erbb2 (Her2) and Erk phosphorylation in cultured cells (PMID: 28164408), and therefore, is predicted to lead to a gain of Erbb2 (Her2) protein function.
A644V missense no effect - predicted ERBB2 (HER2) A644V lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). A644V does not lead to transformation of cells in culture (PMID: 29967253), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
A705E missense unknown ERBB2 (HER2) A705E lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). A705E has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
A705V missense unknown ERBB2 (HER2) A705V lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). A705V has been identified in the scientific literature (PMID: 30449325), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Nov 2020).
A710E missense unknown ERBB2 (HER2) A710E lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). A710E has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
A710V missense gain of function - predicted ERBB2 (HER2) A710V lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). A710V results in increased cell survival compared to wild-type Erbb2 (Her2) in culture (PMID: 30449325), and therefore, is predicted to result in a gain of Erbb2 (Her2) protein function.
A730T missense unknown ERBB2 (HER2) A730T lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). A730T has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
A751S missense unknown ERBB2 (HER2) A751S lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). A751S has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
A751T missense unknown ERBB2 (HER2) A751T lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). A751T results in decreased cell proliferation and cell viability as compared to wild-type Erbb2 (Her2) in one of two cell lines (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown.
A763Pfs*6 frameshift unknown ERBB2 (HER2) A763Pfs*6 indicates indicates a shift in the reading frame starting at amino acid 763 and terminating 6 residues downstream causing a premature truncation of the 1255 amino acid Erbb2 (Her2) protein (UniProt.org). A763Pfs*6 has been identified in sequencing studies (PMID: 27756406), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
A763S missense unknown ERBB2 (HER2) A763S lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). A763S has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
A763T missense unknown ERBB2 (HER2) A763T lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). A763T has been identified in the scientific literature (PMID: 28351340), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
A771_Y772insAYVM insertion gain of function - predicted ERBB2 (HER2) A771_Y772insAYVM results in the insertion of four amino acids in the protein kinase domain of the Erbb2 (Her2) protein between amino acids 771 and 772 (UniProt.org). A771_Y772insAYVM has not been characterized, but can be predicted to result in a gain of function based on the effect of other Egfr exon 20 insertions (PMID: 16843263, PMID: 17311002, PMID: 23220880).
A775D missense unknown ERBB2 (HER2) A775D lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). A775D has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
A775dup duplication unknown ERBB2 A775dup indicates the insertion of the duplicate amino acid, alanine (A)-15, in the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). A775dup has been identified in the scientific literature (PMID: 27267833), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Nov 2020).
A775G missense no effect - predicted ERBB2 (HER2) A775G lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). A775G does not lead to cytokine-independent growth in cell culture (PMID: 29967253), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
A775S missense unknown ERBB2 (HER2) A775S lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). A775S has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
A775_G776insIRDG insertion no effect - predicted ERBB2 (HER2) A775_G776insIRDG results in the insertion of four amino acids in the protein kinase domain of the Erbb2 (Her2) protein between amino acids 775 and 776 (UniProt.org). A775_G776insIRDG has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Erbb2 (Her2) in culture (PMID: 29533785), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
A775_G776insSVMA insertion gain of function - predicted ERBB2 (HER2) A775_G776insSVMA results in the insertion of four amino acids in the protein kinase domain of the Erbb2 (Her2) protein between amino acids 775 and 776 (UniProt.org). A775_G776insSVMA has not been characterized, but can be predicted to result in a gain of function based on the effect of other Erbb2 (Her2) exon 20 insertions (PMID: 16843263, PMID: 17311002, PMID: 23220880).
A775_G776insVA insertion gain of function - predicted ERBB2 (HER2) A775_G776insVA results in the insertion of two amino acids in the protein kinase domain of the Erbb2 (Her2) protein between amino acids 775 and 776 (UniProt.org). A775_G776insVA has not been characterized, but can be predicted to result in a gain of function based on the effect of other Erbb2 (Her2) exon 20 insertions (PMID: 16843263, PMID: 17311002, PMID: 23220880).
A830D missense unknown ERBB2 (HER2) A830D lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). A830D has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
A830S missense unknown ERBB2 (HER2) A830S lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). A830S has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
A847T missense unknown ERBB2 (HER2) A847T lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). A847T has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
A847V missense unknown ERBB2 (HER2) A847V lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). A847T has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
A848D missense unknown ERBB2 (HER2) A848D lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). A848D has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
A848S missense unknown ERBB2 (HER2) A848S lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). A848S has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
A848T missense unknown ERBB2 (HER2) A848T lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). A848T has been identified in the scientific literature (PMID: 26001389), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
A848V missense unknown ERBB2 (HER2) A848V lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). A848V has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
A867D missense unknown ERBB2 (HER2) A867D lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). A867D has not been characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
A867V missense unknown ERBB2 (HER2) A867V lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). A867V has not been characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Nov 2020).
A879T missense unknown ERBB2 (HER2) A879T lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). A879T has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
A890G missense unknown ERBB2 (HER2) A890G lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). A890G has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
A890V missense unknown ERBB2 (HER2) A890V lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). A890V has been identified in sequencing studies (PMID: 22722839), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
A920T missense unknown ERBB2 (HER2) A920T lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). A920T has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
A920V missense unknown ERBB2 (HER2) A920V lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). A920V has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
A928S missense unknown ERBB2 (HER2) A928S lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). A928S has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
A928T missense unknown ERBB2 (HER2) A928T lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). A928T has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
A980V missense unknown ERBB2 (HER2) A980V lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). A980V has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
act mut unknown gain of function ERBB2 (HER2) act mut indicates that this variant results in a gain of function in the Erbb2 (Her2) protein. However, the specific amino acid change has not been identified.
amp none no effect ERBB2 (HER2) amplification indicates an increased number of copies of the ERBB2 (HER2) gene. However, the mechanism causing the increase is unspecified.
C311R missense gain of function ERBB2 (HER2) C311R lies within the extracellular domain of the Erbb2 (Her2) protein (PMID: 22908275). C311R results in disulfide bond-mediated Erbb2 (Her2) dimerization and is transforming in cell culture (PMID: 22908275).
C334S missense gain of function ERBB2 (HER2) C334S lies within the extracellular domain of the Erbb2 (Her2) protein (PMID: 22908275). C334S results in disulfide bond-mediated Erbb2 (Her2) dimerization and is transforming in cell culture (PMID: 22908275).
C515R missense gain of function - predicted ERBB2 (HER2) C515R lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). C515R results in increased Erbb2 (Her2), Erk, and Akt phosphorylation in cultured cells (PMID: 28164408), and therefore, is predicted to lead to a gain of Erbb2 (Her2) protein function.
C544F missense unknown ERBB2 (HER2) C544F lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). C544F has been identified in sequencing studies (PMID: 29420467), but has not been biochemically chatacterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
C630Y missense unknown ERBB2 (HER2) C630Y lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). C630Y has been identified in the scientific literature (PMID: 18413839), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
C789* nonsense unknown ERBB2 (HER2) C789* results in a premature truncation of the Erbb2 (Her2) protein at amino acid 789 of 1255 (UniProt.org). C789* has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
C789Y missense unknown ERBB2 (HER2) C789Y lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). C789Y has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
C805S missense unknown ERBB2 (HER2) C805S lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). C805S is associated with resistance to Erbb2 (Her2)-targeted therapies in cell culture (PMID: 28363995), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020). Y
C826S missense unknown ERBB2 (HER2) C826S lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). C826S has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
C826Y missense unknown ERBB2 (HER2) C826Y lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). C826Y has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
C947Y missense unknown ERBB2 (HER2) C947Y lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). C947Y has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
C958F missense unknown ERBB2 (HER2) C958F lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). C958F has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
D1058A missense no effect - predicted ERBB2 (HER2) D1058A lies within the cytoplasmic domain of the Erbb2 (Her2) protein (UniProt.org). D1058A has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Erbb2 (Her2) in culture (PMID: 29533785), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
D1144Y missense no effect - predicted ERBB2 (HER2) D1144Y lies within the cytoplasmic domain of the Erbb2 (Her2) protein (UniProt.org). D1144Y has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Erbb2 (Her2) in culture (PMID: 29533785), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
D251N missense unknown ERBB2 (HER2) D251N lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). D251N has not been characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
D277G missense unknown ERBB2 (HER2) D277G lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). D277G has been identified in sequencing studies (PMID: 29420467), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
D277H missense unknown ERBB2 (HER2) D277H lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). D277H results in minor changes in Erbb2 (Her2) activity alone, but enhanced phosphorylation of Erbb2 (Her2), Shc and Erk when in combination with S310F in cell culture (PMID: 24971884), and therefore, its effect on Erbb2 (Her2) protein function is unknown.
D277Y missense no effect - predicted ERBB2 (HER2) D277Y lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). D277Y does not demonstrate Erbb2 (Her2) gain of function activity in a cell culture assay (J Clin Oncol 35, 2017 (suppl; abstr e23150)), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
D326G missense no effect ERBB2 (HER2) D326G lies within the extracellular domain of the Erbb2 (Her2) protein (PMID: 22908275). D326G does not result in increased Erbb2 (Her2) phosphorylation or the ability to transform cells in culture (PMID: 22908275).
D417Y missense unknown ERBB2 (HER2) D417Y lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). D417Y results in decreased cell proliferation and cell viability as compared to wild-type Erbb2 (Her2) in one of two different cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
D582N missense no effect - predicted ERBB2 (HER2) D582N lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). D582N has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Erbb2 (Her2) in culture (PMID: 29533785), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
D742H missense no effect - predicted ERBB2 (HER2) D742H lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). D742H has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Erbb2 (Her2) in culture (PMID: 29533785), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
D742N missense unknown ERBB2 (HER2) D742N lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). D742N has been identified in the scientific literature (PMID: 32327210), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Nov 2020).
D769A missense loss of function - predicted ERBB2 (HER2) D769A lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). D769A demonstrates loss of Erbb2 (Her2) kinase activity in cell culture (PMID: 23843458), and therefore, is predicted to lead to a loss of Erbb2 (Her2) protein function.
D769E missense unknown ERBB2 (HER2) D769E lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). D769E has been identified in the scientific literature (PMID: 26320869), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
D769H missense unknown ERBB2 (HER2) D769H lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). D769H confers resistance to selected tyrosine kinase inhibitors (PMID: 31588020), results in constitutive phosphorylation of Erbb2 (Her2), activation of downstream signaling, is transforming in cell culture (PMID: 29967253, PMID: 31588020), and promotes tumor formation in xenograft models (PMID: 23220880), however, in another study, induces similar cell proliferation and cell viability to wild-type Erbb2 (Her2) in two different cell lines (PMID: 29533785), and therefore, its effect on Erbb2 (Her2) protein function is unknown. Y
D769N missense unknown ERBB2 (HER2) D769N lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). D769N confers resistance to selected tyrosine kinase inhibitors, results in activation of Erbb2 (Her2) downstream signaling, and is transforming in culture in one study (PMID: 31588020), but results in similar cell proliferation and viability levels as wild-type Erbb2 (Her2) in another study (PMID: 29533785), and therefore, its effect on Erbb2 (Her2) protein function is unknown. Y
D769Y missense gain of function ERBB2 (HER2) D769Y lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). D769Y results in constitutive phosphorylation of Erbb2 (Her2), increased downstream signaling, is transforming in cell culture (PMID: 23220880, PMID: 29967253, PMID: 31588020), and confers resistance to selected tyrosine kinase inhibitors (PMID: 31588020). Y
D808E missense unknown ERBB2 (HER2) D808E lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). D808E has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
D821H missense unknown ERBB2 (HER2) D821H lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). D821H has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
D821N missense gain of function - predicted ERBB2 (HER2) D821N lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). D821N is weakly transforming and confers Erbb2 (Her2) inhibitor resistance in cell culture (PMID: 18413839), and therefore, is predicted to result in a gain of Erbb2 (Her2) protein function. Y
D821Y missense unknown ERBB2 (HER2) D821Y lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). D821Y has been identified in sequencing studies (PMID: 21720365), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
D838Y missense unknown ERBB2 (HER2) D838Y lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). D838Y has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
D845A missense loss of function ERBB2 (HER2) D845A lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). D845A results in loss of Erbb2 (Her2) phosphorylation and abolishes transformation potential in cell culture (PMID: 22908275).
D845N missense loss of function ERBB2 (HER2) D845N lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). D845N confers a loss of function to the Erbb2 (Her2) protein, as demonstrated by loss of kinase activity (PMID: 25468910, PMID: 11279155), impaired EGF-induced acini outgrowth (PMID: 22139081), and failure to induce mitochondrial Ck1 expression in culture (PMID: 30174304).
D863Tfs*2 frameshift unknown ERBB2 (HER2) D863Tfs*2 indicates a shift in the reading frame starting at amino acid 863 and terminating 2 residues downstream causing a premature truncation of the 1255 amino acid Erbb2 (Her2) protein (UniProt.org). D863Tfs*2 has not been characterized in the scientific literature and therefore, its effect on Map2k7 protein function is unknown (PubMed, Nov 2020).
D871Y missense unknown ERBB2 (HER2) D871Y lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). D871Y has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
D873E missense unknown ERBB2 (HER2) D873E lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). D873E has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
D873G missense unknown ERBB2 (HER2) D873G lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). D873G has been identified in sequencing studies (PMID: 29718453, PMID: 31370007), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
D873N missense unknown ERBB2 (HER2) D873N lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). D873N has not been characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
D880H missense unknown ERBB2 (HER2) D880H lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). D880H has been identified in the scientific literature (PMID: 26320869), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
D880N missense no effect - predicted ERBB2 (HER2) D880N lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). D880N has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Erbb2 (Her2) in culture (PMID: 29533785), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
D904E missense unknown ERBB2 (HER2) D904E lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). D904E has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
D924N missense unknown ERBB2 (HER2) D924N lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). D924N has been identified in sequencing studies (PMID: 29990497), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
D933H missense unknown ERBB2 (HER2) D933H lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). D933H has not been characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
D950E missense unknown ERBB2 (HER2) D950E lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). D950E has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
D950M missense unknown ERBB2 (HER2) D950M lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). D950M has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
D950N missense unknown ERBB2 (HER2) D950N lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). D950N has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
D962N missense unknown ERBB2 (HER2) D962N lies within the protein kinase domain of Erbb2 (Her2) protein (UniProt.org). D962N has been identified in sequencing studies (PMID: 24121792), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
D962Y missense unknown ERBB2 (HER2) D962Y lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). D962Y has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
D982Y missense unknown ERBB2 (HER2) D982Y lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). D982Y has not been characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
dec exp none no effect ERBB2 (HER2) dec exp indicates decreased expression of the Erbb3 (Her3) protein and/or mRNA. However, the mechanism causing the decreased expression is unspecified.
E1021Q missense no effect - predicted ERBB2 (HER2) E1021Q lies within the cytoplasmic domain of the Erbb2 (Her2) protein (UniProt.org). E1021Q has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Erbb2 (Her2) in culture (PMID: 29533785), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
E1064Q missense no effect - predicted ERBB2 (HER2) E1064Q lies within the cytoplasmic domain of the Erbb2 (Her2) protein (UniProt.org). E1064Q has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Erbb2 (Her2) in culture (PMID: 29533785), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
E1079K missense no effect - predicted ERBB2 (HER2) E1079K lies within the cytoplasmic domain of the Erbb2 (Her2) protein (UniProt.org). E1079K does not lead to transformation of cells in culture (PMID: 29967253), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
E1195G missense unknown ERBB2 (HER2) E1195G lies within the PIK3C2B-interacting region of the Erbb2 (Her2) protein (UniProt.org). E1195G has been identified in sequencing studies (PMID: 28164408), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
E1229* nonsense unknown ERBB2 (HER2) E1229* results in a premature truncation of the Erbb2 (Her2) protein at amino acid 1229 of 1255 (UniProt.org). E1229* has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) function is unknown (PubMed, Oct 2020).
E1244D missense no effect - predicted ERBB2 (HER2) E1244D lies within the cytoplasmic domain of the Erbb2 (Her2) protein (UniProt.org). E1244D has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Erbb2 (Her2) in culture (PMID: 29533785), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
E1244Q missense no effect - predicted ERBB2 (HER2) E1244Q lies within the cytoplasmic domain of the Erbb2 (Her2) protein (UniProt.org). E1244Q has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Erbb2 (Her2) in culture (PMID: 29533785), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
E139D missense no effect - predicted ERBB2 (HER2) E139D lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). E139D results in similar Erbb2 (Her2), Erk, and Akt phosphorylation as wild-type Erbb2 (Her2) in cultured cells (PMID: 28164408), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
E139G missense no effect - predicted ERBB2 (HER2) E139G lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). E139G results in similar Erbb2 (Her2), Erk, and Akt phosphorylation compared to wild-type Erbb2 (Her2) in cultured cells (PMID: 28164408), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
E265K missense unknown ERBB2 (HER2) E265K lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). E265K has been identified in sequencing studies (PMID: 24997986, PMID: 29338072), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
E280K missense no effect - predicted ERBB2 (HER2) E280K lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). E280K has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Erbb2 (Her2) in culture (PMID: 29533785), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
E321G missense gain of function ERBB2 (HER2) E321G lies within the extracellular domain of the Erbb2 (Her2) protein (PMID: 22908275). E321G results in disulfide bond-mediated Erbb2 (Her2) dimerization and is transforming in cell culture (PMID: 22908275, PMID: 29533785).
E693K missense gain of function - predicted ERBB2 (HER2) E693K lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). E693K results in increased cell survival as compared to wild-type Erbb2 (Her2) in culture (PMID: 30449325), and therefore, is predicted to result in a gain of Erbb2 (Her2) protein function.
E695* nonsense loss of function - predicted ERBB2 (HER2) E695* results in a premature truncation of the Erbb2 (Her2) protein at amino acid 695 of 1255 (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), E695* is predicted to lead to a loss of Erbb2 (Her2) protein function.
E695D missense unknown ERBB2 (HER2) E695D lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). E695D has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
E698* nonsense loss of function - predicted ERBB2 (HER2) E698* results in a premature truncation of the Erbb2 (Her2) protein at amino acid 698 of 1255 (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), E698* is predicted to lead to a loss of Erbb2 (Her2) protein function.
E698D missense unknown ERBB2 (HER2) E698D lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). E698D has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
E698del deletion unknown ERBB2 (HER2) E698del results in the deletion of an amino acid in the juxtamembrane domain of the Erbb2 (Her2) protein at amino acid 698 (UniProt.org). E698del has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Nov 2020).
E698K missense unknown ERBB2 (HER2) E698K lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). E698K has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Nov 2020).
E698V missense unknown ERBB2 (HER2) E698V lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). E698V has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Nov 2020).
E717D missense gain of function ERBB2 (HER2) E717D lies within the cytoplasmic domain of the Erbb2 (Her2) protein (UniProt.org). E717D confers a gain of function to the Erbb2 (Her2) protein as indicated by increased phosphorylation of Erbb2 (Her2), downstream signaling, and colony formation, and is transforming in cell culture (PMID: 31046123).
E717K missense unknown ERBB2 (HER2) E717K lies within the cytoplasmic domain of the Erbb2 (Her2) protein (UniProt.org). E717K has been demonstrated to confer resistance to Tykerb (lapatinib) in cell culture (PMID: 18413839), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020). Y
E717V missense unknown ERBB2 (HER2) E717V lies within the cytoplasmic domain of the Erbb2 (Her2) protein (UniProt.org). E717V has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
E719* nonsense loss of function - predicted ERBB2 (HER2) E719* results in a premature truncation of the Erbb2 (Her2) protein at amino acid 719 of 1255 (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), E719* is predicted to lead to a loss of Erbb2 (Her2) protein function.
E719G missense unknown ERBB2 (HER2) E719G lies within the cytoplasmic domain of the Erbb2 (Her2) protein (UniProt.org). E719G is associated with drug resistance in cell culture (PMID: 18413839), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020). Y
E719K missense unknown ERBB2 (HER2) E719K lies within the cytoplasmic domain of the Erbb2 (Her2) protein (UniProt.org). E719K has identified in the scientific literature (PMID: 18413839), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
E744D missense unknown ERBB2 (HER2) E744D lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). E744D has been identified in sequencing studies (PMID: 30205045), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
E744G missense unknown ERBB2 (HER2) E744G lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). E744G has been identified in the scientific literature (PMID: 17575133), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
E744K missense unknown ERBB2 (HER2) E744K lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). E744K has been identified in sequencing studies (PMID: 29872714), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
E757A missense unknown ERBB2 (HER2) E757A lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). E757A has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
E757D missense unknown ERBB2 (HER2) E757D lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). E757D has not been characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
E757K missense unknown ERBB2 (HER2) E757K lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). E757K has not been characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
E766K missense unknown ERBB2 (HER2) E766K lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). E766K has been identified in sequencing studies (PMID: 25669975), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
E770_A771insGIRD insertion unknown ERBB2 (HER2) E770_A771insGIRD results in the insertion of four amino acids in the protein kinase domain of the Erbb2 (Her2) protein between amino acids 770 and 771 (UniProt.org). E770_A771insGIRD has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Nov 2020).
E812K missense unknown ERBB2 (HER2) E812K lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). E812K confers Tykerb (lapatinib) resistance in cell culture (PMID: 18413839), but has not been biochemically characterized, and therefore its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020). Y
E837V missense unknown ERBB2 (HER2) E837V lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). E837V has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
E874* nonsense unknown ERBB2 (HER2) E874* results in a premature truncation of the Erbb2 (Her2) protein at amino acid 874 of 1255 (UniProt.org). E874* has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
E874D missense unknown ERBB2 (HER2) E874D lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). E874D has been identified in sequencing studies (PMID: 27756406), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
E874K missense unknown ERBB2 (HER2) E874K lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). E874K has been identified in the scientific literature (PMID: 26320869), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
E876* nonsense unknown ERBB2 (HER2) E876* results in a premature truncation of the Erbb2 (Her2) protein at amino acid 876 of 1255 (UniProt.org). E876* has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
E876K missense unknown ERBB2 (HER2) E876K lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). E876K has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
E892G missense unknown ERBB2 (HER2) E892G lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). E892G has not been characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
E914D missense unknown ERBB2 (HER2) E914D lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). E914D has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
E914K missense unknown ERBB2 (HER2) E914K lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). E914K has been identified in sequencing studies (PMID: 15457249), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
E914V missense unknown ERBB2 (HER2) E914V lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). E914V has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
E930D missense no effect - predicted ERBB2 (HER2) E930D lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). E930D has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Erbb2 (Her2) in culture (PMID: 29533785), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
E930K missense no effect - predicted ERBB2 (HER2) E930K lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). E930K has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Erbb2 (Her2) in culture (PMID: 29533785), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
E930Rfs*24 frameshift unknown ERBB2 (HER2) E930Rfs*24 indicates a shift in the reading frame starting at amino acid 930 and terminating 24 residues downstream causing a premature truncation of the 1255 amino acid Erbb2 (Her2) protein (UniProt.org). E930Rfs*24 has been identified in sequencing studies (PMID: 30181556), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
E936K missense gain of function ERBB2 (HER2) E936K lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). E936K results in increased Erbb2 (Her2) autophosphorylation and downstream signaling, elevated transphosphorylation of Erbb2/Egfr heterodimers, and cell transformation in culture (PMID: 33323455).
E939D missense unknown ERBB2 (HER2) E939D lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). E939D has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
E939G missense unknown ERBB2 (HER2) E939G lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). E939G has not been characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
E964* nonsense unknown ERBB2 (HER2) E964* results in a premature truncation of the Erbb2 (Her2) protein at amino acid 964 of 1255 (UniProt.org). E964* has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
E971G missense unknown ERBB2 (HER2) E971G lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). E971G has been identified in sequencing studies (PMID: 21347793), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
E971V missense unknown ERBB2 (HER2) E971V lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). E971V has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
E975Nfs*85 frameshift unknown ERBB2 E975Nfs*85 indicates indicates a shift in the reading frame starting at amino acid 975 and terminating 85 residues downstream causing a premature truncation of the 1255 amino acid Erbb2 (Her2) protein (UniProt.org). E975Nfs*85 has been identified in sequencing studies (PMID: 27284958), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
E975V missense unknown ERBB2 (HER2) E975V lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). E975V has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
ERBB2 - TMEM98 fusion unknown ERBB2-TMEM98 results from the fusion of ERBB2 (HER2) and TMEM98. ERBB2-TMEM98 has not been characterized in the scientific literature and therefore, its effect on protein function is unknown (PubMed, Oct 2020).
exon 20 ins indel unknown ERBB2 (HER2) exon 20 insertions are in-frame insertions within the kinase domain of Erbb2 (Her2) (PMID: 16843263). Exon 20 insertions may result in increased Erbb2 (Her2) kinase activity, and are associated with low sensitivity to Egfr tyrosine kinase inhibitors (PMID: 16843263).
exon20 unknown unknown ERBB2 (HER2) exon 20 indicates an unspecified mutation has occurred in exon 20 of the ERBB2 (HER2) gene.
F1030C missense no effect - predicted ERBB2 (HER2) F1030C lies within the cytoplasmic domain of the Erbb2 (Her2) protein (UniProt.org). F1030C results in similar Erbb2 (Her2), Erk, and Akt phosphorylation as wild-type Erbb2 (Her2) in cultured cells (PMID: 28164408), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
F616L missense unknown ERBB2 (HER2) F616L lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). F616L has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
F671S missense unknown ERBB2 (HER2) F671S lies within the transmembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). F671S has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Nov 2020).
F899L missense unknown ERBB2 (HER2) F899L lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). F899L has been identified in sequencing studies (PMID: 23415222), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
fusion fusion unknown ERBB2 (HER2) fusion indicates a fusion of the ERBB2 (HER2) gene, but the fusion partner is unknown.
G1015E missense unknown ERBB2 (HER2) G1015E lies within the cytoplasmic domain of the Erbb2 (Her2) protein (UniProt.org). G1015E has been identified in sequencing studies (PMID: 25925381), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
G1015W missense no effect - predicted ERBB2 (HER2) G1015W lies within the cytoplasmic domain of the Erbb2 (Her2) protein (UniProt.org). G1015W has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Erbb2 (Her2) in culture (PMID: 29533785), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
G1041fs frameshift unknown ERBB2 (HER2) G1041fs results in a change in the amino acid sequence of the Erbb2 (Her2) protein beginning at aa 1041 of 1255, likely resulting in premature truncation of the functional protein (UniProt.org). G1041fs has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
G135E missense no effect - predicted ERBB2 (HER2) G135E lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). G135E does not lead to growth advantage or transformation of cells in culture (PMID: 29967253), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
G222C missense unknown ERBB2 (HER2) G222C lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). G222C results in increased transformation ability as compared to wild-type Erbb2 (Her2) in one of two different cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
G292R missense gain of function - predicted ERBB2 (HER2) G292R lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). G292R results in increased cell growth in culture (PMID: 24997986), and therefore, is predicted to lead to a gain of Erbb2 (Her2) protein function.
G309A missense unknown ERBB2 (HER2) G309A lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). G309A does not result in increased Erbb2 (Her2) phosphorylation, but is transforming in cell culture and promotes tumor formation in xenograft models, and is predicted to enhance Erbb2 (Her2) dimerization in one study (PMID: 23220880), however, in another study, G309A results in similar cell proliferation and viability levels to wild-type Erbb2 (Her2) in two different cell lines in culture (PMID: 29533785), and therefore, its effect on Erbb2 (Her2) protein function is unknown.
G309E missense unknown ERBB2 (HER2) G309E lies within the extracellular domain of the Erbb2 (Her2) protein (PMID: 22908275). G309E results in disulfide bond-mediated Erbb2 (Her2) dimerization and is transforming in cell culture in one study (PMID: 22908275), but in another study, G309E results in similar cell proliferation and viability levels as wild-type Erbb2 (Her2) in two different cell lines in culture (PMID: 29533785), and therefore, its effect on Erbb2 (Her2) protein function is unknown.
G383E missense no effect - predicted ERBB2 (HER2) G383E lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). G383E has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Erbb2 (Her2) in culture (PMID: 29533785), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
G660D missense gain of function ERBB2 (HER2) G660D lies within the transmembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). G660D leads to constitutive activation of Erbb2 (Her2) and increased downstream signaling in cell culture (PMID: 26545934) and results in increased cell survival and the formation of multi-acinar bodies in the absence of ligand (PMID: 30449325).
G660R missense gain of function ERBB2 (HER2) G660R lies within the transmembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). G660R results in elevated Erbb2 (Her2) phosphorylation in vitro and increased cell survival as compared to wild-type Erbb2 (Her2) in culture (PMID: 30449325).
G704* nonsense loss of function - predicted ERBB2 (HER2) G704* results in a premature truncation of the Erbb2 (Her2) protein at amino acid 704 of 1255 (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), M704* is predicted to lead to a loss of Erbb2 (Her2) protein function.
G704R missense unknown ERBB2 (HER2) G704R lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). G704R has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Nov 2020).
G727A missense unknown ERBB2 (HER2) G727A lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). G727A has been identified in sequencing studies (PMID: 30205045), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
G727E missense unknown ERBB2 (HER2) G727E lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). G727E has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
G727R missense unknown ERBB2 (HER2) G727R lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). G727R has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
G732D missense unknown ERBB2 (HER2) G732D lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). G732D has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
G732S missense unknown ERBB2 (HER2) G732S lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). G732S has not been characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
G732V missense unknown ERBB2 (HER2) G732V lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). G732V has been identified in the scientific literature (PMID: 25653542), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
G737C missense unknown ERBB2 (HER2) G737C lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). G737C has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
G737V missense unknown ERBB2 (HER2) G737V lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). G737V has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
G743W missense unknown ERBB2 (HER2) G743W lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). G743W has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
G776C missense unknown ERBB2 (HER2) G776C lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). G776C has been identified in the scientific literature (PMID: 22761469, PMID: 32527755), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Sep 2020).
G776delinsIC indel gain of function - predicted ERBB2 (HER2) G776delinsIC results in a deletion of a glycine (G) at amino acid 776 within the protein kinase domain of the Erbb2 (Her2) protein, combined with the insertion of an isoleucine (I) and a cysteine (C) at the same site (UniProt.org). G776delinsIC has not been characterized, but can be predicted to result in a gain of function based on the effect of other Erbb2 (Her2) exon 20 insertions (PMID: 16843263, PMID: 17311002, PMID: 23220880).
G776delinsLC indel gain of function ERBB2 (HER2) G776delinsLC results in a deletion of a glycine (G) at amino acid 776 within the protein kinase domain of the Erbb2 (Her2) protein, combined with the insertion of a leucine (L) and a cystine (C) at the same site (UniProt.org). G776delinsLC leads to constitutive activation of Erbb2 (Her2), increased downstream signaling, is transforming in cell culture (PMID: 26545934, PMID: 29967253, PMID: 31588020), and confers resistance to selected tyrosine kinase inhibitors (PMID: 31588020). Y
G776delinsVC indel gain of function ERBB2 (HER2) G776delinsVC results in a deletion of a glycine (G) at amino acid 776 within the protein kinase domain of the Erbb2 (Her2) protein, combined with the insertion of a valine (V) and a cystine (C) at the same site (UniProt.org). G776delinsVC leads to constitutive activation of Erbb2 (Her2), increased downstream signaling (PMID: 26545934, PMID: 31588020), is transforming in cell culture (PMID: 29533785, PMID: 29967253), and confers resistance to selected tyrosine kinase inhibitors (PMID: 31588020). Y
G776delinsVV indel gain of function ERBB2 (HER2) G776delinsVV results in a deletion of a glycine (G) at amino acid 776 within the protein kinase domain of the Erbb2 (Her2) protein, combined with the insertion of two valines (V) at the same site (UniProt.org). G776delinsVV results in constitutive ERbb2 (Her2) phosphorylation, activation of downstream signaling, is transforming in cell culture (PMID: 29686424, PMID: 31588020), and confers resistance to selected tyrosine kinase inhibitors (PMID: 31588020). Y
G776L missense unknown ERBB2 G776L lies within the protein kinase domain of the Erbb2 protein (UniProt.org). G776L has been identified in the scientific literature (PMID: 22325357), but has not been biochemically characterized and therefore, its effect on Erbb2 protein function is unknown (PubMed, Oct 2020).
G776R missense gain of function - predicted ERBB2 (HER2) G776R lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). G776R results in increased Erbb2 (Her2) phosphorylation in one cell line and increased Erk phosphorylation in another cell line as compared to wild-type Erbb2 (Her2) in culture (PMID: 28164408), and therefore, is predicted to lead to a gain of Erbb2 (Her2) protein function.
G776S missense gain of function ERBB2 (HER2) G776S lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). G776S results in increased Erbb2 (Her2) kinase activity, activation of the Mapk pathway (PMID: 18039657), is transforming in cell culture (PMID: 29967253), and in one of two cell lines, G776S increased cell proliferation and cell viability as compared to wild-type Erbb2 (Her2) (PMID: 29533785).
G776V missense gain of function ERBB2 (HER2) G776V lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). G776V confers a gain of function to the Erbb2 (Her2) protein as indicated by increased downstream Mapk signaling and colony formation (Chudnovsky,Y et al. JCO Prec Onc, Aug 2017), transformation in cell culture (PMID: 29967253), and increased cell proliferation and cell viability as compared to wild-type Erbb2 (Her2) in one of two cell lines (PMID: 29533785).
G776_V777insL insertion gain of function - predicted ERBB2 (HER2) G776_V777insL results in the insertion of a leucine (L) in the protein kinase domain of the Erbb2 (Her2) protein between amino acids 776 and 777 (UniProt.org). G776_V777insL has not been characterized, but can be predicted to result in a gain of function based on the effect of other Erbb2 (Her2) exon 20 insertions (PMID: 16843263, PMID: 17311002, PMID: 23220880).
G776_V777insVC insertion gain of function - predicted ERBB2 (HER2) G776_V777insVC results in the insertion of two amino acids in the protein kinase domain of the Erbb2 (Her2) protein between amino acids 776 and 777 (UniProt.org). G776_V777insVC has not been characterized, but can be predicted to result in a gain of function based on the effect of other Erbb2 (Her2) exon 20 insertions (PMID: 16843263, PMID: 17311002, PMID: 23220880).
G776_V777insVGC insertion gain of function - predicted ERBB2 (HER2) G776_V777insVGC results in the insertion of three amino acids in the protein kinase domain of the Erbb2 (Her2) protein between amino acids 776 and 777 (UniProt.org). G776_V777insVGC has not been characterized, but can be predicted to result in a gain of function based on the effect of other Erbb2 (Her2) exon 20 insertions (PMID: 16843263, PMID: 17311002, PMID: 23220880).
G776_V777insYVMA insertion gain of function ERBB2 (HER2) G776_V777insYVMA results in the insertion of four amino acids in the protein kinase domain of the Erbb2 (Her2) protein between amino acids 776 and 777 (UniProt.org). G776_V777insYVMA results in constitutive phosphorylation of Erbb2 (Her2), activation of downstream signaling, and is transforming in cell culture (PMID: 16843263).
G778A missense unknown ERBB2 (HER2) G778A lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). G778A has been identified in the scientific literature (PMID: 29420467), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
G778C missense unknown ERBB2 (HER2) G778C lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). G778C has been identified in the scientific literature (PMID: 26320869), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
G778dup duplication gain of function - predicted ERBB2 (HER2) G778dup (also referred to as G778_S779insG and V777_G778insG) indicates the insertion of the duplicate amino acid, glycine (G)-778, in the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). G778dup has not been biochemically characterized, however, has been demonstrated to be transforming in cell culture (PMID: 29967253), and other exon 20 insertions are activating (PMID: 16843263, PMID: 17311002, PMID: 23220880), and therefore, is predicted to lead to a gain of Erbb2 (Her2) protein function.
G778V missense unknown ERBB2 (HER2) G778V lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). G778V has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
G778_P780dup duplication gain of function ERBB2 (HER2) G778_P780dup (also referred to as P780_Y781insGSP and V777_G778insGSP) indicates the insertion of 3 duplicate amino acids, glycine (G)-778 through proline (P)-781, in the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). G778_P780dup results in constitutive activation of Erbb2 (Her2), increased downstream signaling, is transforming in cell culture (PMID: 23220880, PMID: 31588020), and confers resistance to selected tyrosine kinase inhibitors (PMID: 31588020). Y
G778_S779insCPG insertion gain of function - predicted ERBB2 (HER2) G778_S779insCPG results in the insertion of three amino acids in the protein kinase domain of the Erbb2 (Her2) protein between amino acids 778 and 779 (UniProt.org). G778_S779insCPG is transforming in cell culture (PMID: 28363995), and other Erbb2 (Her2) exon 20 insertions are activating (PMID: 16843263, PMID: 17311002, PMID: 23220880), and therefore, is predicted to result in a gain of Erbb2 (Her2) function.
G778_S779insLPG insertion gain of function - predicted ERBB2 (HER2) G778_S779insLPG results in the insertion of three amino acids in the protein kinase domain of the Erbb2 (Her2) protein between amino acids 778 and 779 (UniProt.org). G778_S779insLPG has not been characterized, but can be predicted to result in a gain of function based on the effect of other Erbb2 (Her2) exon 20 insertions (PMID: 16843263, PMID: 17311002, PMID: 23220880).
G778_S779insLPS insertion gain of function ERBB2 (HER2) G778_S779insLPS results in the insertion of three amino acids in the protein kinase domain of the Erbb2 (Her2) protein between amino acids 778 and 779 (UniProt.org). G778_S779insLPS results in constitutive phosphorylation of Erbb2 (Her2), activation of downstream signaling, is transforming in cell culture, and confers resistance to selected tyrosine kinase inhibitors (PMID: 31588020). Y
G787D missense unknown ERBB2 (HER2) G787D lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). G787D has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
G804D missense unknown ERBB2 (HER2) G804D lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). G804D has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
G804S missense unknown ERBB2 (HER2) G804S lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). G804S is predicted to activate the kinase activity of Erbb2 (Her2) by structural modeling (PMID: 24817905), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown.
G815R missense unknown ERBB2 (HER2) G815R lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). G815R has been identified in the scientific literature (PMID: 26320869), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
G818S missense unknown ERBB2 (HER2) G818S lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). G818S has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
G832E missense unknown ERBB2 (HER2) G832E lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). G832E has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
G832W missense unknown ERBB2 (HER2) G832W lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). G832W has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
G865R missense unknown ERBB2 (HER2) G865R lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). G865R has been identified in sequencing studies (PMID: 26001389), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
G865W missense unknown ERBB2 (HER2) G865W lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). G865W has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
G881E missense unknown ERBB2 (HER2) G881E lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). G881E has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
G881R missense unknown ERBB2 (HER2) G881R lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). G881R has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
G881V missense unknown ERBB2 (HER2) G881V lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). G881V has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
G882D missense unknown ERBB2 (HER2) G882D lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). G882D has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
G909V missense unknown ERBB2 (HER2) G909V lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). G909V has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
G919W missense unknown ERBB2 (HER2) G919W lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). G919W demonstrates decreased transformation ability as compared to wild-type Erbb2 (Her2) in one of two different cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
G925V missense unknown ERBB2 (HER2) G925V lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). G925V has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
G925W missense unknown ERBB2 (HER2) G925W lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). G925W has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
G938R missense unknown ERBB2 (HER2) G938R lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). G938R has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
H473N missense no effect - predicted ERBB2 (HER2) H473N lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). H473N has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Erbb2 (Her2) in culture (PMID: 29533785), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
H809N missense unknown ERBB2 (HER2) H809N lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). H809N has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
H809Y missense unknown ERBB2 (HER2) H809Y lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). H809Y has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
H843N missense unknown ERBB2 (HER2) H843N lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). H843N has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
H843Y missense unknown ERBB2 (HER2) H843Y lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). H843Y has been identified in sequencing studies (PMID: 33323389), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
H878R missense unknown ERBB2 (HER2) H878R lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). H878R has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
H878Y missense gain of function ERBB2 (HER2) H878Y lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). H878Y confers a gain of function to the Erbb2 (Her2) protein as demonstrated by increased Erbb2 (Her2) phosphorylation and transformation of cells in cell culture (PMID: 22046346).
H901R missense unknown ERBB2 (HER2) H901R lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). H901R has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
I101S missense no effect - predicted ERBB2 (HER2) I101S lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). I101S has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Erbb2 (Her2) in culture (PMID: 29533785), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
I263T missense no effect - predicted ERBB2 (HER2) I263T lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). I263T does not lead to growth advantage or transformation of cells in culture (PMID: 29967253), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
I654V missense unknown ERBB2 (HER2) I654V lies within the transmembrane domain of the Erbb2 (Her2) protein (UniProt.org). I654V has not been biochemically characterized, however, computational analysis indicates it is predicted to stabilize Erbb2 (Her2) dimerization, resulting in increased autophosphorylation and protein kinase activity (PMID: 15550452), and therefore, its effect on Erbb2 (Her2) protein function is unknown.
I655V missense no effect - predicted ERBB2 (HER2) I655V lies within the transmembrane domain of the Erbb2 (Her2) protein (PMID: 18178548). I655V is a common Erbb2 (Her2) polymorphism (PMID: 21474413, PMID: 14578152) that results in similar cell proliferation and viability levels compared to wild-type Erbb2 (Her2) in two different cell lines (PMID: 29533785), and similar structural morphology to wild-type Erbb2 in culture (PMID: 27697991), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
I675T missense unknown ERBB2 (HER2) I675T lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). I675T has not been characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Nov 2020).
I738F missense unknown ERBB2 (HER2) I738F lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). I738F has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
I740T missense unknown ERBB2 (HER2) I740T lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). I740T has been identified in sequencing studies (PMID: 24816253), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020)
I767F missense unknown ERBB2 (HER2) I767F lies within the protein kinase domain of Erbb2 (Her2) protein (UniProt.org). I767F has been identified in sequencing studies (PMID: 24121792, PMID: 26320869), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
I767M missense unknown ERBB2 (HER2) I767M lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). I767M results in increased Erbb2 (Her2) kinase activity, sustained Akt phosphorylation, and is transforming in cell culture (PMID: 25994018, PMID: 29967253), however, in another study I767M results in similar cell proliferation and viability levels to wild-type Erbb2 (Her2) in two different cell lines in culture (PMID: 29533785), and therefore, its effect on Erbb2 (Her2) protein function is unknown.
I829T missense unknown ERBB2 (HER2) I829T lies within the protein kinase domain of the Erbb2 protein (UniProt.org). I829T has been identified in the scientific literature (PMID: 16638863), but has not been biochemically characterized and therefore, its effect on Erbb2 protein function is unknown (PubMed, Oct 2020).
I861_T862insATLM insertion unknown ERBB2 (HER2) I861_T862insATLM results in the insertion of four amino acids in the protein kinase domain of the Erbb2 (Her2) protein between amino acids 861 and 862 (UniProt.org). I861_T862insATLM has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Nov 2020).
I872N missense unknown ERBB2 (HER2) I872N lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). I872N has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
I886fs frameshift unknown ERBB2 (HER2) I886fs results in a change in the amino acid sequence of the Erbb2 (Her2) protein beginning at aa 886 of 1255, likely resulting in premature truncation of the functional protein (UniProt.org). I886fs has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
I886M missense unknown ERBB2 (HER2) I886M lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). I886M has been identified in sequencing studies (PMID: 30537512, PMID: 30205045), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
I894L missense unknown ERBB2 (HER2) I894L lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). I894L has been identified in sequencing studies (PMID: 22610119), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
I894V missense unknown ERBB2 (HER2) I894V lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). I894V has not been characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
I954N missense unknown ERBB2 (HER2) I954N lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). I954N has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
I954V missense unknown ERBB2 (HER2) I954V lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). I954V has been identified in sequencing studies (PMID: 28978093), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
I961F missense unknown ERBB2 (HER2) I961F lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). I961F has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
I961T missense unknown ERBB2 (HER2) I961T lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). I961T has been identified in sequencing studies (PMID: 30181556), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
K228N missense no effect - predicted ERBB2 (HER2) K228N lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). K228N has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Erbb2 (Her2) in culture (PMID: 29533785), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
K676N missense unknown ERBB2 (HER2) K676N lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). K676N has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
K676R missense no effect ERBB2 (HER2) K676R lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). K676R confers no effect to the Erbb2 (Her2) protein, resulting in kinase activity, phosphorylation, and cell morphology in culture similar to wild-type (PMID: 27697991).
K681N missense unknown ERBB2 (HER2) K681N lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). K681N has been identified in sequencing studies (PMID: 28164408), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
K684R missense unknown ERBB2 (HER2) K684R lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). K684R has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
K716E missense unknown ERBB2 (HER2) K716E lies within the cytoplasmic domain of the Erbb2 (Her2) protein (UniProt.org). K716E demonstrates decreased transformation ability compared to wild-type Erbb2 (Her2) in one of two different cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
K716Q missense unknown ERBB2 (HER2) K716Q lies within the cytoplasmic domain of the Erbb2 (Her2) protein (UniProt.org). K716Q has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
K716R missense unknown ERBB2 (HER2) K716R lies within the cytoplasmic domain of the Erbb2 (Her2) protein (UniProt.org). K716R has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
K722N missense unknown ERBB2 (HER2) K722N lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). K722N has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
K724N missense unknown ERBB2 (HER2) K724N lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). K724N has been identified in sequencing studies (PMID: 16397024), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
K736N missense unknown ERBB2 (HER2) K736N lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). K736N has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
K753* nonsense unknown ERBB2 (HER2) K753* results in a premature truncation of the Erbb2 (Her2) protein at amino acid 753 of 1255 (UniProt.org). K753* has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
K753A missense loss of function ERBB2 (HER2) K753A lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). K753A undergoes chaperone-interacting protein-mediated downregulation (PMID: 12239347) and retains the ability to bind to and undergo phosphorylation by Src (PMID: 17030621, PMID: 19704002), and demonstrates loss of protein kinase activity (PMID: 22393464, PMID: 11071886), and fails to induce heregulin-mediated Erbb3 activation in culture and fails to repress ER beta activity in a reporter assay (PMID: 15862947).
K753E missense unknown ERBB2 (HER2) K753E lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). K753E does not result in increased phosphorylation of Erbb2 (Her2) or downstream PLC-gamma, and results in similar tumor formation to wild-type Erbb2 (Her2) in mouse models, however, results in increased Egfr phosphorylation and is associated with resistance to some Erbb2 (Her2) inhibitors (PMID: 27697991, PMID: 29389942). Y
K753M missense loss of function ERBB2 (HER2) K753M lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). K753M demonstrates loss of Erbb2 (Her2) and Erk phosphorylation (PMID: 16489002, PMID: 16407820, PMID: 18039657, PMID: 24810047), reduced Cdc2 binding and activation in culture (PMID: 12049736), impaired membrane localization, reduced binding with Src and Pkc alpha, and decreased Pkc alpha phosphorylation and kinase activity in cell culture and in vitro assays (PMID: 16407820).
K831N missense unknown ERBB2 (HER2) K831N lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). K831N has been identified in the scientific literature (PMID: 29420467), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
K854* nonsense unknown ERBB2 (HER2) K854* results in a premature truncation of the Erbb2 (Her2) protein at amino acid 854 of 1255 (UniProt.org). K854* has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
K860* nonsense unknown ERBB2 (HER2) K860* results in a premature truncation of the 1255 of the Erbb2 (Her2) protein at amino acid 860 of 1255 (UniProt.org). K860* has been identified in sequencing studies (PMID: 27756406), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
K860I missense unknown ERBB2 (HER2) K860I lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). K860I has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
K883M missense unknown ERBB2 (HER2) K883M lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). K883M has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
K937R missense unknown ERBB2 (HER2) K937R lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). K937R demonstrates decreased transformation ability as compared to wild-type Erbb2 (Her2) in one of two different cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
K957N missense unknown ERBB2 (HER2) K957N lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). K957N has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
L1157R missense gain of function ERBB2 L1157R lies within the cytoplasmic domain of the Erbb2 protein (UniProt.org). L1157R results in increased Erbb2 phosphorylation and increased phosphorylation of Erk and Akt, and is transforming in cell culture (PMID: 32366937).
L1249* nonsense unknown ERBB2 (HER2) L1249* results in a premature truncation of the Erbb2 (Her2) protein at amino acid 1249 of 1255 (UniProt.org). L1249* has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Nov 2020).
L12R missense no effect - predicted ERBB2 (HER2) L12R lies within the signal peptide region of the Erbb2 (Her2) protein (UniProt.org). L12R results in increased Erk phosphorylation in one of two cell lines, however, demonstrates similar Erbb2 (Her2) and Akt phosphorylation to wild-type Erbb2 (Her2) in culture (PMID: 28164408), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
L145F missense no effect - predicted ERBB2 (HER2) L145F lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). L145F has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Erbb2 (Her2) in culture (PMID: 29533785), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
L313I missense unknown ERBB2 (HER2) L313I lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). L313I has been identified in the scientific literature (PMID: 30301790, PMID: 25975284), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
L313V missense unknown ERBB2 (HER2) L313V lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). L313V demonstrates decreased transformation ability as compared to wild-type Erbb2 (Her2) in one of two different cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020)
L49H missense no effect ERBB2 (HER2) L49H lies within the extracellular domain of the Erbb2 (Her2) protein (PMID: 22908275). L49H demonstrates phosphorylation level and transformation potential comparable to wild-type Erbb2 (Her2) protein in cell culture (PMID: 22908275).
L663P missense unknown ERBB2 (HER2) L663P lies within the transmembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). L663P is conflicting as it results in similar cell proliferation and viability levels as wild-type Erbb2 (Her2) in one study (PMID: 29533785), but in another study when expressed in cells in the presence of wild-type Erbb2 (Her2), it results in large multi-acinar bodies and increased cell survival as compared to wild-type in culture (PMID: 30449325), and therefore, its effect on Erbb2 (Her2) protein function is unknown.
L674P missense unknown ERBB2 (HER2) L674P lies within the transmembrane domain of the Erbb2 (Her2) protein (UniProt.org). L674P has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
L690* nonsense loss of function - predicted ERBB2 (HER2) L690* results in a premature truncation of the Erbb2 (Her2) protein at amino acid 690 of 1255 (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), L690* is predicted to lead to a loss of Erbb2 (Her2) protein function.
L690Q missense unknown ERBB2 (HER2) L690Q lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). L690Q has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
L690V missense unknown ERBB2 (HER2) L690V lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). L690V has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
L696V missense unknown ERBB2 (HER2) L696V lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). L696V has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
L720P missense unknown ERBB2 (HER2) L720P lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). L720P has been identified in the scientific literature (PMID: 26001389), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
L720V missense unknown ERBB2 (HER2) L720V lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). L720V has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
L726F missense gain of function ERBB2 (HER2) L726F lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). L726F confers a gain of function to the Erbb2 (Her2) protein as indicated by increased cell proliferation in culture, increased tumor growth in vivo, and localization to the perinuclear cytoplasm (PMID: 25435280).
L726I missense unknown ERBB2 (HER2) L726I lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). L726I is associated with resistance to Iressa (gefitinib) and Tykerb (lapatinib) in cell culture (PMID: 17638894, PMID: 18413839), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020). Y
L755* nonsense unknown ERBB2 (HER2) L755* results in a premature truncation of the Erbb2 (Her2) protein at amino acid 755 of 1255 (UniProt.org). L755* has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
L755A missense unknown ERBB2 (HER2) L755A lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). L755A has been identified in the scientific literature (PMID: 28167203, PMID: 29989854), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
L755F missense unknown ERBB2 (HER2) L755F lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). L755F has been identified in the scientific literature (PMID: 27565914), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
L755M missense no effect - predicted ERBB2 (HER2) L755M lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). L755M has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Erbb2 (Her2) in culture (PMID: 29533785), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
L755P missense gain of function ERBB2 (HER2) L755P lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). L755P results in increased phosphorylation of Erbb2 (Her2), activation of downstream signaling, is transforming in cell culture (PMID: 22046346, PMID: 29967253, PMID: 31588020), and confers resistance to selected tyrosine kinase inhibitors (PMID: 31588020). Y
L755S missense gain of function ERBB2 (HER2) L755S lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). L755S results in increased phosphorylation of Erbb2 (Her2), activation of downstream signaling, is transforming in cell culture (PMID: 29967253, PMID: 31588020), and is associated with resistance to Erbb2 (Her2)-targeted therapies (PMID: 22046346, PMID: 28487443). Y
L755W missense unknown ERBB2 (HER2) L755W lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). L755W has been identified in the scientific literature (PMID: 23220880, PMID: 27811364), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
L755X missense unknown ERBB2 (HER2) L755X indicates any ERBB2 (HER2) missense mutation that results in the leucine (L) at amino acid 755 being replaced by a different amino acid.
L755_E757del deletion unknown ERBB2 (HER2) L755_E757del results in the deletion of three amino acids in the protein kinase domain of the Erbb2 (Her2) protein from amino acids 755 to 757 (UniProt.org). L755_E757del has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
L755_E757delinsPQ indel unknown ERBB2 (HER2) L755_E757delinsPQ results in a deletion of 3 amino acids in the protein kinase domain of the Erbb2 (Her2) protein from amino acids 755 to 757, combined with the insertion of a proline (P) and an glutamine (Q) at the same site (UniProt.org). L755_E757delinsPQ has been identified in sequencing studies (PMID: 31854063), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Nov 2020).
L755_E757delinsS indel unknown ERBB2 (HER2) L755_E757delinsS results in the deletion of three amino acids from aa 755 to 757 within the protein kinase domain of the Erbb2 (Her2) protein, combined with the insertion of a serine (S) at the same site (UniProt.org). L755_E757delinsS has been identified in the scientific literature (PMID: 29420467), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Dec 2020).
L755_T759del deletion gain of function ERBB2 (HER2) L755_T759del results in the deletion of five amino acids in the protein kinase domain of the Erbb2 (Her2) protein from amino acids 755 to 759 (UniProt.org). L755_T759del confers a gain of function to the Erbb2 (Her2) protein as demonstrated by increased phosphorylation of Egfr and Erbb3 (Her3), tumor growth (PMID: 23220880), and is transforming in cell culture (PMID: 29533785).
L768S missense gain of function ERBB2 (HER2) L768S lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). L768S confers a gain of function to the Erbb2 (Her2) protein as demonstrated by increased tyrosine kinase activity and phosphorylation compared to wild-type, and abnormal cellular morphology in culture (PMID: 27697991).
L785F missense unknown ERBB2 (HER2) L785F lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). L785F confers Tykerb (lapatinib)-resistance in cell culture (PMID: 18413839), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020). Y
L785R missense unknown ERBB2 (HER2) L785R lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). L785R has been identified in the scientific literature (PMID: 27994651), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
L786M missense unknown ERBB2 (HER2) L786M lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). L786M has been identified in sequencing studies (PMID: 30181556), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
L786V missense gain of function ERBB2 (HER2) L786V lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). L786V results in constitutive phosphorylation of Erbb2 (Her2), increased downstream signaling, is transforming in cell culture, and confers resistance to selected tyrosine kinase inhibitors (PMID: 31588020). Y
L800F missense unknown ERBB2 (HER2) L800F lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). L800F has been identified in the scientific literature (PMID: 26320869), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
L800I missense unknown ERBB2 (HER2) L800I lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). L800I has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
L806F missense unknown ERBB2 (HER2) L806F lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). L806F has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
L806H missense unknown ERBB2 (HER2) L806H lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). L806H has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
L807F missense unknown ERBB2 (HER2) L807F lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). L807F has been identified in sequencing studies (PMID: 26164066), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Nov 2020).
L841I missense gain of function - predicted ERBB2 (HER2) L841I lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). L841I leads to transformation of cultured cells (PMID: 30279230), and therefore, is predicted to lead to a gain of Erbb2 (Her2) protein function.
L841V missense gain of function - predicted ERBB2 (HER2) L841V lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). L841V results in increased cell proliferation and cell viability as compared to wild-type Erbb2 (Her2) in two different cell lines (PMID: 29533785), and demonstrates transformation in cell culture (PMID: 29967253), and therefore, is predicted to result in a gain of Erbb2 (Her2) protein function.
L846F missense unknown ERBB2 (HER2) L846F lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). L846F has been identified in sequencing studies (PMID: 27528220), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
L866M missense gain of function ERBB2 (HER2) L866M lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). L866M results in constitutive phosphorylation of Erbb2 (Her2) and increased phosphorylation of Mapk in cell culture (PMID: 26243863).
L869M missense unknown ERBB2 (HER2) L869M lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). L869M has not been characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
L869Q missense unknown ERBB2 (HER2) L869Q lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). L869Q has been identified in the scientific literature (PMID: 26487584, PMID: 27602491, PMID: 28274957), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
L869R missense gain of function ERBB2 (HER2) L869R lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). L869R results in constitutive Erbb2 (Her2) phosphorylation, activation of downstream signaling, transformation of cultured cells (PMID: 31588020), enhanced tumor formation and metastasis in animal models (PMID: 27900369), and confers resistance to selected tyrosine kinase inhibitors (PMID: 31588020). Y
L891P missense unknown ERBB2 (HER2) L891P lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). L891P has been identified in sequencing studies (PMID: 30181556), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
L895F missense unknown ERBB2 (HER2) L895F lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). L895F has been identified in sequencing studies (PMID: 25303977), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
L915M missense unknown ERBB2 (HER2) L915M lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). L915M confers Tykerb (lapatinib)-resistance in cell culture (PMID: 18413839), but has not been biochemically characterized and therefore its effect on Erbb2 (Her2) protein is unknown (PubMed, Oct 2020). Y
L915P missense unknown ERBB2 (HER2) L915P lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). L915P has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
L934M missense unknown ERBB2 (HER2) L934M lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). L934M has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
L935M missense unknown ERBB2 (HER2) L935M lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). L935M has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
L941M missense unknown ERBB2 (HER2) L941M lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). L941M has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
L972V missense unknown ERBB2 (HER2) L972V lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). L972V has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
M687I missense unknown ERBB2 (HER2) M687I lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). M687I has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
M706* nonsense loss of function - predicted ERBB2 (HER2) M706* results in a premature truncation of the Erbb2 (Her2) protein at amino acid 706 of 1255 (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), M706* is predicted to lead to a loss of Erbb2 (Her2) protein function.
M712I missense unknown ERBB2 (HER2) M712I lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). M712I has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
M774delinsWLV indel gain of function ERBB2 (HER2) M774delinsWLV results in a deletion of methionine (M) at amino acid 774 within the protein kinase domain of the Erbb2 (Her2) protein, combined with the insertion of a tryptophan (W), lysine (L), and a valine (V) at the same site (UniProt.org). M774delinsWLV results in activation of Erbb2 (Her2) and transformation of cultured cells (PMID: 28363995).
M774_A775insAYVM insertion gain of function ERBB2 (HER2) M774_A775insAYVM results in the insertion of four amino acids in the protein kinase domain of the Erbb2 (Her2) protein between amino acids 774 and 775 (UniProt.org). M774_A775insAYVM results in constitutive phosphorylation of Erbb2 (Her2) and is transforming in cell culture (PMID: 17311002).
M827I missense unknown ERBB2 (HER2) M827I lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). M827I has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
M833I missense unknown ERBB2 (HER2) M833I lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). M833I has been identified in sequencing studies (PMID: 30766968, PMID: 30325992, PMID: 30205045), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
M889I missense unknown ERBB2 (HER2) M889I lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). M889I has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
M916I missense unknown ERBB2 (HER2) M916I lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). M916I demonstrates decreased transformation ability as compared to wild-type Erbb2 (Her2) in one of two different cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
M953I missense no effect - predicted ERBB2 (HER2) M953I lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). M953I has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Erbb2 (Her2) in culture (PMID: 29533785), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
M955I missense unknown ERBB2 (HER2) M955I lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). M955I has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
mutant unknown unknown ERBB2 (HER2) mutant indicates an unspecified mutation in the ERBB2 (HER2) gene.
N1219S missense no effect - predicted ERBB2 (HER2) N1219S lies within the cytoplasmic domain of the Erbb2 (Her2) protein (UniProt.org). N1219S has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Erbb2 (Her2) in culture (PMID: 29533785), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
N319D missense no effect ERBB2 (HER2) N319D lies within the extracellular domain of the Erbb2 (Her2) protein (PMID: 22908275). N319D demonstrates phosphorylation level and transformation potential comparable to wild-type Erbb2 (Her2) protein in cell culture (PMID: 22908275).
N571K missense no effect - predicted ERBB2 (HER2) N571K lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). N571K has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Erbb2 (Her2) in culture (PMID: 29533785), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
N745D missense unknown ERBB2 (HER2) N745D lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). N745D has not been characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
N758K missense unknown ERBB2 (HER2) N758K lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). N758K has been identified in sequencing studies (PMID: 31747416), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021)
N813D missense unknown ERBB2 (HER2) N813D lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). N813D has been identified in the scientific literature (PMID: 29215816), but has not been biochemically characterized and therefore its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
N813I missense unknown ERBB2 (HER2) N813I lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). N813I has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
N850S missense unknown ERBB2 (HER2) N850S lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). N850S has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
N857S missense gain of function ERBB2 (HER2) N857S lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). N857S results in constitutive phosphorylation of Erbb2 (Her2) and is transforming in cell culture (PMID: 22046346).
N857Y missense unknown ERBB2 (HER2) N857Y lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). N857Y has been identified in sequencing studies (PMID: 27756406), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
negative unknown loss of function ERBB2 (HER2) negative indicates a lack of the ERBB2 (HER2) gene, mRNA, and/or protein.
over exp none no effect ERBB2 (HER2) over exp indicates an over expression of the Erbb2 (Her2) protein and/or mRNA. However, the mechanism causing the over expression is unknown.
P1074L missense unknown ERBB2 (HER2) P1074L lies within the cytoplasmic domain of the Erbb2 (Her2) protein (PMID: 30531871). P1074L has been identified in the scientific literature (PMID: 30531871, PMID: 32404308), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
P1074S missense gain of function - predicted ERBB2 (HER2) P1074S lies within the cytoplasmic domain of the Erbb2 (Her2) protein (UniProt.org). P1074S results in increased Erbb2 (Her2) phosphorylation in one of two cell lines in culture (PMID: 28164408), and therefore, is predicted to lead to a gain of Erbb2 (Her2) protein function.
P1170A missense no effect - predicted ERBB2 (HER2) P1170A lies within the cytoplasmic domain of the Erbb2 (Her2) protein (UniProt.org). P1170A is a common Erbb2 (Her2) polymorphism (PMID: 15743501) that has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Erbb2 (Her2) in culture (PMID: 29533785), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
P1199T missense no effect - predicted ERBB2 (HER2) P1199T lies within the cytoplasmic domain of the Erbb2 (Her2) protein (UniProt.org). P1199T does not lead to transformation of cells in culture (PMID: 29967253), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
P1207A missense unknown ERBB2 (HER2) P1207A lies within the cytoplasmic domain of the Erbb2 (Her2) protein (UniProt.org). P1207A has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
P1210S missense no effect - predicted ERBB2 (HER2) P1210S lies within the cytoplasmic domain of the Erbb2 (Her2) protein (UniProt.org). P1210S has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Erbb2 (Her2) in culture (PMID: 29533785), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
P122Q missense no effect - predicted ERBB2 (HER2) P122Q lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). P122Q has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Erbb2 (Her2) in culture (PMID: 29533785), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
P1234S missense no effect - predicted ERBB2 (HER2) P1234S lies within the cytoplasmic domain of the Erbb2 (Her2) protein (UniProt.org). P1234S has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Erbb2 (Her2) in culture (PMID: 29533785), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
P197S missense unknown ERBB2 (HER2) P197S lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). P197S has been identified in sequencing studies (PMID: 25589618), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
P230L missense unknown ERBB2 (HER2) P230L lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). P230L has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
P247S missense no effect - predicted ERBB2 (HER2) P247S lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). P247S has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Erbb2 (Her2) in culture (PMID: 29533785), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
P36S missense no effect - predicted ERBB2 (HER2) P36S lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). P36S has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Erbb2 (Her2) in culture (PMID: 29533785), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
P391Q missense no effect - predicted ERBB2 (HER2) P391Q lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). P391Q has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Erbb2 (Her2) in culture (PMID: 29533785), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
P39L missense no effect - predicted ERBB2 (HER2) P39L lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). P39L does not lead to growth advantage or transformation of cells in culture (PMID: 29967253), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
P416L missense no effect - predicted ERBB2 (HER2) P416L lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). P416L has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Erbb2 (Her2) in culture (PMID: 29533785), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
P489L missense unknown ERBB2 (HER2) P489L lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). The functional effect of P489L on Erbb2 protein function is conflicting, as it results in increased Erbb2 and Erk phosphorylation and is transforming in cell culture in one study (PMID: 32366397), but results in similar cell proliferation and viability levels as wild-type Erbb2 (Her2) in another study (PMID: 29533785) and therefore, its effect on Erbb2 (Her2) protein function is unknown.
P489Q missense unknown ERBB2 (HER2) P489Q lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). P489Q demonstrates decreased transformation ability as compared to wild-type Erbb2 (Her2) in one of two different cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
P551L missense unknown ERBB2 (HER2) P551L lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). P551L demonstrates increased transformation ability as compared to wild-type Erbb2 (Her2) in one of two different cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
P699L missense unknown ERBB2 (HER2) P699L lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). P699L has been identified in sequencing studies (PMID: 25303977), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Nov 2020).
P699S missense unknown ERBB2 (HER2) P699S lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). P699S has been identified in the scientific literature (PMID: 30449325, PMID: 27027238), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
P699T missense unknown ERBB2 (HER2) P699T lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). P699T has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
P702L missense unknown ERBB2 (HER2) P702L lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). P702L has been identified in the scientific literature (PMID: 31685261, PMID: 30449325), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
P702S missense unknown ERBB2 (HER2) P702S lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). P702S has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
P707H missense unknown ERBB2 (HER2) P707H lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). P707H has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
P707L missense unknown ERBB2 (HER2) P707L lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). P707L has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
P707S missense unknown ERBB2 (HER2) P707S lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). P707S has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
P761del deletion unknown ERBB2 (HER2) P761del results in the deletion of one amino acid in the protein kinase domain of the Erbb2 (Her2) protein at amino acid 761 (UniProt.org). P761del has been identified in the scientific literature (PMID: 29420467), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
P761H missense unknown ERBB2 (HER2) P761H lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). P761H has been identified in sequencing studies (PMID: 29956783), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
P761L missense unknown ERBB2 (HER2) P761L lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). P761L has been identified in sequencing studies (PMID: 27756406), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
P780L missense unknown ERBB2 (HER2) P780L lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). P780L confers resistance to Tykerb (lapatinib) in cell culture (PMID: 18413839), but has not been biochemically characterized and therefore its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020). Y
P780R missense unknown ERBB2 (HER2) P780R lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). P780R has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
P780S missense unknown ERBB2 (HER2) P780S lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). P780S has been identified in sequencing studies (PMID: 27756406), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
P780T missense unknown ERBB2 (HER2) P780T lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). P780T has been identified in sequencing studies (PMID: 27334835), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
P802L missense unknown ERBB2 (HER2) P802L lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). P802L has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
P802S missense unknown ERBB2 (HER2) P802S lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). P802S has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
P856H missense unknown ERBB2 (HER2) P856H lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). P856H has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
P856L missense unknown ERBB2 (HER2) P856L lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). P856L has been identified in sequencing studies (PMID: 30723296), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
P856R missense unknown ERBB2 (HER2) P856R lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). P856R has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
P885S missense unknown ERBB2 (HER2) P885S lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). P885S demonstrates decreased transformation ability as compared to wild-type Erbb2 (Her2) in one of two different cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
P927Q missense unknown ERBB2 (HER2) P927Q lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). P927Q has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
P927S missense unknown ERBB2 (HER2) P927S lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). P927S has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
P944S missense unknown ERBB2 (HER2) P944S lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). P944S has been identified in sequencing studies (PMID: 28481359), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Nov 2020).
P967S missense unknown ERBB2 (HER2) P967S lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). P967S has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
positive unknown unknown ERBB2 (HER2) positive indicates the presence of the ERBB2 (HER2) gene, mRNA, and/or protein. ERBB2 (HER2) positive has been used alternatively to refer to overexpression and/or amplification of ERBB2 (HER2). For related data, refer to ERBB2 amp or ERBB2 over exp in CKB.
Q679H missense unknown ERBB2 (HER2) Q679H lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). Q679H has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
Q679K missense unknown ERBB2 (HER2) Q679K lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). Q679K has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
Q679L missense gain of function ERBB2 (HER2) Q679L lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). Q679L confers a gain of function to the Erbb2 (Her2) protein as indicated by increased phosphorylation of Erbb2 (Her2), downstream signaling, and colony formation, and is transforming in cell culture (PMID: 31046123).
Q680del deletion unknown ERBB2 (HER2) Q680del results in the deletion of an amino acid in the juxtamembrane domain of the Erbb2 (Her2) protein at amino acid 680 (PMID: 30449325). Q680del has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
Q680H missense unknown ERBB2 (HER2) Q680H lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). Q680H has been identified in the scientific literature (PMID: 32291971), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Nov 2020).
Q680L missense unknown ERBB2 (HER2) Q680L lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). Q680L has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
Q680R missense no effect ERBB2 (HER2) Q680R lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). Q680R confers no effect to the Erbb2 (Her2) protein, resulting in kinase activity, phosphorylation, and cell morphology in culture similar to wild-type (PMID: 27697991).
Q692* nonsense loss of function - predicted ERBB2 (HER2) Q692* results in a premature truncation of the Erbb2 (Her2) protein at amino acid 692 of 1255 (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), Q692* is predicted to lead to a loss of Erbb2 (Her2) protein function.
Q692H missense unknown ERBB2 (HER2) Q692H lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). Q692H has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
Q709L missense gain of function ERBB2 (HER2) Q709L lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). Q709L results in increased cell survival in the presence of wild-type Erbb2 (Her2) and demonstrates elevated Erbb2 (Her2) phosphorylation compared to wild-type Erbb2 (Her2) in vitro and the formation of large multi-acinar bodies in culture, both in the presence and absence of wild-type Erbb2 (Her2) (PMID: 30449325).
Q711H missense no effect - predicted ERBB2 (HER2) Q711H lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). Q711H has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Erbb2 (Her2) in culture (PMID: 29533785), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
Q711K missense unknown ERBB2 (HER2) Q711K lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). Q711K has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
Q795H missense unknown ERBB2 (HER2) Q795H lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). Q795H has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
Q795R missense unknown ERBB2 (HER2) Q795R lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). Q795R has been identified in the scientific literature (PMID: 21274259), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
Q799H missense unknown ERBB2 (HER2) Q799H lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). Q779H has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
Q799P missense unknown ERBB2 (HER2) Q799P lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). Q799P has been identified in sequencing studies (PMID: 16397024), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
Q828* nonsense unknown ERBB2 (HER2) Q828* results in a premature truncation of the Erbb2 (Her2) protein at amino acid 828 of 1255 (UniProt.org). Q828* has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
Q828H missense unknown ERBB2 (HER2) Q828H lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). Q828H has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
Q902* nonsense unknown ERBB2 (HER2) Q902* results in a premature truncation of the 1255 of the Erbb2 (Her2) protein at amino acid 902 of 1255 (UniProt.org). Q902* has been identified in sequencing studies (PMID: 29880898), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
Q902H missense unknown ERBB2 (HER2) Q902H lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). Q902H has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
Q943* nonsense unknown ERBB2 (HER2) Q943* results in a premature truncation of the Erbb2 (Her2) protein at amino acid 943 of 1255 (UniProt.org). Q943* has been identified in the scientific literature (PMID: 32291971), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Nov 2020).
Q984K missense unknown ERBB2 (HER2) Q984K lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). Q984K has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
R1006C missense no effect - predicted ERBB2 (HER2) R1006C lies within the cytoplasmic domain of the Erbb2 (Her2) protein (UniProt.org). R1006C has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Erbb2 (Her2) in culture (PMID: 29533785), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
R103Q missense unknown ERBB2 (HER2) R103Q lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). R103Q has been identified in sequencing studies (PMID: 29371993, PMID: 28583311), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
R1053M missense no effect - predicted ERBB2 (HER2) R1053M lies within the cytoplasmic domain of the Erbb2 (Her2) protein (UniProt.org). R1053M has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Erbb2 (Her2) in culture (PMID: 29533785), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
R1146W missense unknown ERBB2 (HER2) R1146W lies within the cytoplasmic domain of the Erbb2 (Her2) protein (UniProt.org). R1146W has been identified in sequencing studies (PMID: 28164408, PMID: 29072371), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
R1153* nonsense unknown ERBB2 (HER2) R1153* results in a premature truncation of the Erbb2 (Her2) protein at amino acid 1229 of 1255 (UniProt.org). R1153* has been identified in the scientific literature (PMID: 29420467, PMID: 23575477), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
R1153L missense unknown ERBB2 (HER2) R1153L lies within the cytoplasmic domain of the Erbb2 (Her2) protein (PMID: 30531871). R1153L has been identified in the scientific literature (PMID: 30531871), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
R138Q missense no effect - predicted ERBB2 (HER2) R138Q lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). R138Q does not lead to growth advantage or transformation of cells in culture (PMID: 29967253), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
R138W missense no effect - predicted ERBB2 (HER2) R138W lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). R138W has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Erbb2 (Her2) in culture (PMID: 29533785), and therefore, it is predicted to have no effect on Erbb2 (Her2) protein function.
R143G missense unknown ERBB2 (HER2) R143G lies within the extracellular domain of the Erbb2 (Her2) protein (PMID: 30531871). R143G has been identified in the scientific literature (PMID: 30531871), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
R157W missense unknown ERBB2 (HER2) R157W lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). R157W has been identified in sequencing studies (PMID: 24192927, PMID: 28164408), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
R188C missense gain of function ERBB2 R188C lies within the extracellular domain of the Erbb2 protein (UniProt.org). R188C results in increased Erbb2 phosphorylation and increased phosphorylation of Erk and Akt, and is transforming in cell culture (PMID: 32366937).
R217C missense unknown ERBB2 (HER2) R217C lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). The functional effect of R217C is conflicting, as it demonstrates transformation of cells in one cell line, however, does not lead to transformation in another cell line in culture (PMID: 29967253), and therefore, its effect on Erbb2 (Her2) protein function is unknown.
R217H missense unknown ERBB2 (HER2) R217H lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). R217H has been identified in sequencing studies (PMID: 30348637, PMID: 29718453), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Aug 2020).
R226S missense unknown ERBB2 (HER2) R226S lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). R226S demonstrates increased transformation ability as compared to wild-type Erbb2 (Her2) in one of two different cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
R34Q missense no effect - predicted ERBB2 (HER2) R34Q lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). R34Q does not lead to growth advantage or transformation of cells in culture (PMID: 29967253), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
R432W missense unknown ERBB2 (HER2) R432W lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). R432W has been identified in sequencing studies (PMID: 27363283), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
R456C missense unknown ERBB2 (HER2) R456C lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). R456C has been identified in the scientific literature (PMID: 30301790), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
R487W missense no effect - predicted ERBB2 (HER2) R487W lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). R487W has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Erbb2 (Her2) in culture (PMID: 29533785), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
R545* nonsense loss of function - predicted ERBB2 (HER2) R545* results in a premature truncation of the Erbb2 (Her2) protein at amino acid 545 of 1255 (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), R545* is predicted to lead to a loss of Erbb2 (Her2) protein function.
R647K missense no effect ERBB2 (HER2) R647K lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). R647K confers no effect to the Erbb2 (Her2) protein, resulting in kinase activity, phosphorylation, and cell morphology in culture similar to wild-type (PMID: 27697991).
R677* nonsense loss of function - predicted ERBB2 (HER2) R677* results in a premature truncation of the Erbb2 (Her2) protein at amino acid 677 of 1255 (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), R677* is predicted to lead to a loss of Erbb2 (Her2) protein function.
R677L missense gain of function - predicted ERBB2 (HER2) R677L lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). R677L results in increased cell survival as compared to wild-type Erbb2 (Her2) in culture (PMID: 30449325), and therefore, is predicted to result in a gain of Erbb2 (Her2) protein function.
R677Q missense no effect - predicted ERBB2 (HER2) R677Q lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). R677Q does not lead to transformation of cells in culture (PMID: 29967253), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
R678L missense unknown ERBB2 (HER2) R678L lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). R678L has been identified in the scientific literature (PMID: 25636205), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
R678Q missense unknown ERBB2 (HER2) R678Q lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). The functional effect of R678Q is conflicting, as it demonstrates phosphorylation levels and transformation potential comparable to wild-type Erbb2 (Her2) protein in cell culture and xenograft models (PMID: 29533785, PMID: 23220880), however, in other studies, results in increased phosphorylation of Erbb2 (Her2) and activation of downstream signaling (PMID: 24971884, PMID: 31046123), and is transforming in culture (PMID: 30449325, PMID: 31588020, PMID: 31046123). Y
R678W missense gain of function - predicted ERBB2 (HER2) R678W lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). R678W results in increased cell survival as compared to wild-type Erbb2 (Her2) in culture (PMID: 30449325), and therefore, is predicted to result in a gain of Erbb2 (Her2) protein function.
R683G missense unknown ERBB2 (HER2) R683G lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). R683G has been identified in the scientific literature (PMID: 29279289), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Nov 2020).
R683Q missense no effect - predicted ERBB2 (HER2) R683Q lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). R683Q has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Erbb2 (Her2) in culture (PMID: 29533785), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
R683W missense unknown ERBB2 (HER2) R683W lies within KPNB1 and EEA1-interacting regions of the Erbb2 (Her2) protein (UniProt.org). R683W has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
R688Q missense unknown ERBB2 (HER2) R688Q lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). R688Q has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Nov 2020).
R688W missense unknown ERBB2 (HER2) R688W lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). R688W has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Nov 2020).
R689I missense unknown ERBB2 (HER2) R689I lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). R689I has been identified in the scientific literature (PMID: 30449325), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
R713L missense unknown ERBB2 (HER2) R713L lies within the juxtamembrane domain of the Erbb2 (Her2) protein (UniProt.org). R713L has been identified in the scientific literature (PMID: 30449325), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
R713Q missense unknown ERBB2 (HER2) R713Q lies within the cytoplasmic domain of the Erbb2 (Her2) protein (UniProt.org). R713Q has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
R713W missense unknown ERBB2 (HER2) R713W lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). R713W has been identified in the scientific literature (PMID: 32647540), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Nov 2020).
R756G missense unknown ERBB2 (HER2) R756G lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). R756G has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
R756K missense unknown ERBB2 (HER2) R756K lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). R756K has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
R756M missense unknown ERBB2 (HER2) R756M lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). R756M has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
R784C missense unknown ERBB2 (HER2) R784C lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). R784C has been identified in the scientific literature (PMID: 26320869), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
R784G missense unknown ERBB2 (HER2) R784G lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). R784G has been associated with resistance to Egfr antibodies (PMID: 30549033), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
R784H missense unknown ERBB2 (HER2) R784H lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). R784H has been identified in the scientific literature (PMID: 24797764), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
R784S missense unknown ERBB2 (HER2) R784S lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). R784S has been identified in sequencing studies (PMID: 27756406), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
R811Q missense unknown ERBB2 (HER2) R811Q lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). R811Q has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
R811W missense unknown ERBB2 (HER2) R811W lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). R811W has been identified in sequencing studies (PMID: 32550823), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
R814C missense unknown ERBB2 (HER2) R814C lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). R814C has been identified in the scientific literature (PMID: 26320869), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
R814H missense unknown ERBB2 (HER2) R814H lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). R814H has been identified in sequencing studies (PMID: 33033274), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
R814S missense unknown ERBB2 (HER2) R814S lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). R814S has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
R816C missense unknown ERBB2 (HER2) R816C lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). R816C has been identified in sequencing studies (PMID: 29718453), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
R816H missense unknown ERBB2 (HER2) R816H lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). R816H has been identified in the scientific literature (PMID: 26320869), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
R840Q missense unknown ERBB2 (HER2) R840Q lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). R840Q has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
R840W missense unknown ERBB2 (HER2) R840W lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). R840W has been identified in sequencing studies (PMID: 32291971), but has not been biochemically characterized and therefore, its effect on Erbb2 protein function is unknown (PubMed, Jan 2021).
R844M missense unknown ERBB2 (HER2) R844M lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). R844M has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
R844W missense unknown ERBB2 (HER2) R844W lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). R844W has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
R849L missense unknown ERBB2 (HER2) R849L lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). R849L has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
R849Q missense unknown ERBB2 (HER2) R849Q lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). R849Q has been identified in sequencing studies (PMID: 25589618), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
R849W missense unknown ERBB2 (HER2) R849W lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). R849W has been identified in sequencing studies (PMID: 28164408, PMID: 31620276), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
R868Q missense unknown ERBB2 (HER2) R868Q lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). R868Q has not been characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
R868W missense loss of function ERBB2 (HER2) R868W lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). R868W results in decreased Erbb2 (Her2) and Mapk phosphorylation in cell culture (PMID: 28743916), and in one of two cell lines, R868W decreased cell proliferation and cell viability as compared to wild-type Erbb2 (Her2) (PMID: 29533785).
R896C missense gain of function ERBB2 (HER2) R896C lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). R896C results in constitutive phosphorylation of Erbb2 (Her2), increased downstream signaling, and is transforming in cell culture (PMID: 23220880).
R896H missense unknown ERBB2 (HER2) R896H lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). R896H has been identified in sequencing studies (PMID: 29338072), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
R897G missense gain of function - predicted ERBB2 (HER2) R897G lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). R897G results in increased Erbb2 (Her2) phosphorylation in one of two cell lines in culture (PMID: 28164408), and therefore, is predicted to lead to a gain of Erbb2 (Her2) protein function.
R897Q missense no effect - predicted ERBB2 (HER2) R897Q lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). R897Q has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Erbb2 (Her2) in culture (PMID: 29533785), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
R897W missense unknown ERBB2 (HER2) R897W lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). R897W has been identified in sequencing studies (PMID: 28667006), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
R898Q missense unknown ERBB2 (HER2) R898Q lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). R898Q has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
R898W missense unknown ERBB2 (HER2) R898W lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). R898W has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
R929L missense unknown ERBB2 (HER2) R929L lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). R929L has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
R929Q missense unknown ERBB2 (HER2) R929Q lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). R929Q has been identified in sequencing studies (PMID: 19336545), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
R929W missense unknown ERBB2 (HER2) R929W lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). R929W has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
R940Q missense unknown ERBB2 (HER2) R940Q lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). R940Q has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
R940W missense unknown ERBB2 (HER2) R940W lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). R940W has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
R966C missense loss of function ERBB2 (HER2) R966C lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). R966C results in decreased Erbb2 (Her2) and Mapk phosphorylation in cell culture (PMID: 28743916).
R966L missense unknown ERBB2 (HER2) R966L lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). R966L has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
R966Q missense unknown ERBB2 (HER2) R966Q lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). R966Q has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
R966W missense unknown ERBB2 (HER2) R966W lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). R966W has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
R970L missense unknown ERBB2 (HER2) R970L lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). R970L has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
R970Q missense unknown ERBB2 (HER2) R970Q lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). R970Q has been identified in sequencing studies (PMID: 27904775), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
R970W missense unknown ERBB2 (HER2) R970W lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). R970W has been identified in the scientific literature (PMID: 21347793), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
R978C missense unknown ERBB2 (HER2) R978C lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). R978C has been identified in sequencing studies (PMID: 26926684), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
R978H missense unknown ERBB2 (HER2) R978H lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). R978H has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
R978L missense unknown ERBB2 (HER2) R978L lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). R978L has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
R985C missense unknown ERBB2 (HER2) R985C lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). R985C has been identified in sequencing studies (PMID: 29990497), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
R985S missense unknown ERBB2 (HER2) R985S lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). R985S has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
rearrange unknown unknown ERBB2 rearrange indicates an unspecified rearrangement of the ERBB2 gene.
S1002R missense unknown ERBB2 (HER2) S1002R lies within the cytoplasmic domain of the Erbb2 (Her2) protein (UniProt.org). S1002R confers Tykerb (lapatinib)-resistance in cell culture (PMID: 18413839), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020). Y
S1050L missense unknown ERBB2 (HER2) S1050L lies within the cytoplasmic domain of the Erbb2 (Her2) protein (UniProt.org). S1050L has been identified in sequencing studies (PMID: 32578376, PMID: 31810925, PMID: 29312580), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
S250F missense unknown ERBB2 (HER2) S250F lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). S250F has been identified in sequencing studies (PMID: 29420467, PMID: 29522538), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
S305F missense no effect - predicted ERBB2 (HER2) S305F lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). S305F has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Erbb2 (Her2) in culture (PMID: 29533785), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
S310F missense gain of function ERBB2 (HER2) S310F lies within the extracellular domain of the Erbb2 (Her2) protein (PMID: 22908275). S310F confers a gain of function to Erbb2 (Her2) as indicated by increased phosphorylation of Erbb2 (Her2) and downstream signaling, colony formation, migration, transformation in cell culture (PMID: 22908275, PMID: 29533785, PMID: 29967253, PMID: 29954840), and enhanced tumor growth in mouse models (PMID: 29954840).
S310Y missense gain of function ERBB2 (HER2) S310Y lies within the extracellular domain of the Erbb2 (Her2) protein (PMID: 22908275). S310Y confers a gain of function to Erbb2 (Her2) as indicated by increased downstream p-AKT and p-ERK signaling, colony formation, migration, and transformation potential in cell culture (PMID: 22908275, PMID: 29967253; PMID: 29954840), increased cell proliferation and cell viability as compared to wild-type Erbb2 (Her2) in one of two cell lines (PMID: 29533785), and enhanced tumor growth in mouse models (PMID: 29954840).
S423R missense gain of function ERBB2 (HER2) S423R lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). S423R confers a gain of function to the Erbb2 (Her2) protein as indicated by increased phosphorylation of Erbb2 (Her2), downstream signaling, and colony formation, and is transforming in cell culture (PMID: 31046123).
S573L missense no effect - predicted ERBB2 (HER2) S573L lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). S573L has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Erbb2 (Her2) in culture (PMID: 29533785), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
S633F missense no effect - predicted ERBB2 (HER2) S633F lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). S633F does not lead to transformation of cells in culture (PMID: 29967253), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
S653C missense gain of function ERBB2 (HER2) S653C lies within the transmembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). S653C results in constitutive activation of Erbb2 (Her2) and phosphorylation of Shc and Erk in cell culture (PMID: 24971884) and leads to increased cell survival as compared to wild-type Erbb2 (Her2) in culture (PMID: 30449325).
S656C missense gain of function - predicted ERBB2 (HER2) S656C lies within the transmembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). S656C results in increased cell survival as compared to wild-type Erbb2 (Her2) in cell culture (PMID: 30449325), and therefore, is predicted to result in a gain of Erbb2 (Her2) protein function.
S703N missense unknown ERBB2 (HER2) S703N lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). S703N has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
S703R missense unknown ERBB2 (HER2) S703R lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). S703R has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
S728F missense unknown ERBB2 (HER2) S728F lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). S728F has been identified in the scientific literature (PMID: 28583311), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
S760A missense no effect ERBB2 (HER2) S760A lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). S760A did not demonstrate an independent functional effect, however, has been shown to occur with other Erbb2 (Her2) activating mutations, including L755_T759del (PMID: 23220880).
S760F missense unknown ERBB2 (HER2) S760F lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). S760F has been identified in the scientific literature (PMID: 16638863), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
S760P missense unknown ERBB2 (HER2) S760P lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). S760P has been identified in sequencing studies (PMID: 25344691), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
S760Y missense unknown ERBB2 (HER2) S760Y lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). S760Y has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
S779F missense unknown ERBB2 (HER2) S779F lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). S779F has been identified in the scientific literature (PMID: 26320869), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
S779P missense unknown ERBB2 (HER2) S779P lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). S779P has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
S779Y missense unknown ERBB2 (HER2) S779Y lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). S779Y has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
S783P missense no effect - predicted ERBB2 (HER2) S783P lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). S783P is associated with Erbb2 (Her2) inhibitor resistance in cell culture (PMID: 18413839), but does not result in increased phosphorylation of Erbb2 (Her2) or downstream targets in cultured cells (PMID: 28164408), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function. Y
S792F missense no effect - predicted ERBB2 (HER2) S792F lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). S792F results in activation of JAK/STAT and NFkappaB signaling similar to wild-type Erbb2 (Her2) in a reporter assay (PMID: 29464843), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
S819F missense unknown ERBB2 (HER2) S819F lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). S819F has been identified in the scientific literature (PMID: 29665843), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
S819P missense unknown ERBB2 (HER2) S819P lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). S819P has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
S834C missense unknown ERBB2 (HER2) S834C lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). S834C has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
S834G missense unknown ERBB2 (HER2) S834G lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). S834G has been identified in sequencing studies (PMID: 33001984), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
S834I missense unknown ERBB2 (HER2) S834I lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). S834I has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
S834R missense unknown ERBB2 (HER2) S834R lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). S834R has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
S855I missense unknown ERBB2 (HER2) S855I lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). S855I has been identified in sequencing studies (PMID: 27756406, PMID: 28229982), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
S855N missense unknown ERBB2 (HER2) S855N lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). S855N has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
S903N missense unknown ERBB2 (HER2) S903N lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). S903N has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
S903R missense unknown ERBB2 (HER2) S903R lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). S903R has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
S907C missense unknown ERBB2 (HER2) S907C lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). S907C has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
S907N missense unknown ERBB2 (HER2) S907N lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). S907N has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
S974A missense unknown ERBB2 (HER2) S974A lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). S974A has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
S974F missense unknown ERBB2 (HER2) S974F lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org).S974F demonstrates decreased transformation ability as compared to wild-type Erbb2 (Her2) in one of two different cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
S974Y missense unknown ERBB2 (HER2) S974Y lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). S974Y has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
S977F missense unknown ERBB2 (HER2) S977F lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). S977F has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
T166M missense unknown ERBB2 (HER2) T166M lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). T166M has been identified in sequencing studies (PMID: 27287813), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Nov 2020).
T182I missense no effect - predicted ERBB2 (HER2) T182I lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). T182I has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Erbb2 (Her2) in culture (PMID: 29533785), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
T216S missense gain of function - predicted ERBB2 (HER2) T216S lies within the extracellular domain of the Erbb2 (Her2) protein (PMID: 22908275). T216S demonstrates increased kinase activity in cell culture (PMID: 22908275), and therefore, is predicted to lead to a gain of Erbb2 (Her2) protein function.
T306M missense no effect - predicted ERBB2 (HER2) T306M lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). T306M has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Erbb2 (Her2) in culture (PMID: 29533785), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
T496I missense unknown ERBB2 (HER2) T496I lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). T496I has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
T526A missense gain of function - predicted ERBB2 (HER2) T526A lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). T526A results in increased Erbb2 (Her2) phosphorylation in one cell line and increased Erk phosphorylation in another cell line in culture (PMID: 28164408), and therefore, is predicted to lead to a gain of Erbb2 (Her2) protein function.
T652R missense no effect - predicted ERBB2 (HER2) T652R lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). T652R has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Erbb2 (Her2) in culture (PMID: 29533785), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
T686A missense loss of function - predicted ERBB2 (HER2) T686A lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). T686A results in increased cell survival compared to wild-type Erbb2 (Her2) in culture (PMID: 30449325), but demonstrates an inability to undergo Thr (T)-686 phosphorylation by Pka, fails to synergistically enhance neuregulin-dependent Erbb2 (Her2) and Erbb3 (Her3) activation and downstream signaling, results in reduced mitogenic response in the presence of neuregulin and Pka ligands in cell culture (PMID: 18799465), and fails to result in EGF-induced Erbb2 (Her2) activation (PMID: 26676300), and therefore, is predicted to lead to a loss of Erbb2 protein function.
T686K missense unknown ERBB2 (HER2) T686K lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). T686K has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
T686M missense no effect - predicted ERBB2 (HER2) T686M lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). T686M has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Erbb2 (Her2) in culture (PMID: 29533785), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
T686R missense unknown ERBB2 (HER2) T686R lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). T686R has been identified in sequencing studies (PMID: 30449325), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Nov 2020).
T694M missense unknown ERBB2 (HER2) T694M lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). T694M has been identified in sequencing studies (PMID: 27284491), but has not been biochemically characterized and therefore, its effect on Erbb2 protein function is unknown (PubMed, Jan 2021).
T701* nonsense loss of function - predicted ERBB2 (HER2) T701* results in a premature truncation of the Erbb2 (Her2) protein at amino acid 701 of 1255 (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), T701* is predicted to lead to a loss of Erbb2 (Her2) protein function.
T718K missense unknown ERBB2 (HER2) T718K lies within the cytoplasmic domain of the Erbb2 (Her2) protein (UniProt.org). T718K has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
T718M missense unknown ERBB2 (HER2) T718M lies within the cytoplasmic domain of the Erbb2 (Her2) protein (UniProt.org). T718M has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
T733A missense unknown ERBB2 (HER2) T733A lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). T733A has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
T733I missense no effect - predicted ERBB2 (HER2) T733I lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). T733I has not been biochemically characterized, but has weak transformation activity (PMID: 18413839), and induces similar cell proliferation and cell viability as wild-type Erbb2 (Her2), in two different cell lines in culture (PMID: 29533785), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
T759I missense unknown ERBB2 (HER2) T759I lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). T759I has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
T791I missense unknown ERBB2 (HER2) T791I lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). T791I has been identified in sequencing studies (PMID: 29327707), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
T793A missense unknown ERBB2 (HER2) T793A lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). T793A has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
T793M missense unknown ERBB2 (HER2) T793M lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). T793M has been identified in sequencing studies (PMID: 30971436), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Jan 2021).
T798I missense no effect - predicted ERBB2 (HER2) T798I lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). T798I is associated with resistance to Erbb2 (Her2) inhibitors in culture but does not result in activation of Erbb2 (Her2) downstream signaling or transformation of cultured cells (PMID: 25238247, PMID: 28274957, PMID: 18413839), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function. Y
T798M missense gain of function ERBB2 (HER2) T798M lies within the gatekeeper position in the ATP binding site of the Erbb2 (Her2) protein. T798M results in activation of the Erbb2 (Her2) protein in cell culture experiments (PMID: 22046346, PMID: 23948973) and demonstrates the ability to increase cell proliferation and cell viability in culture (PMID: 29533785).
T862A missense gain of function ERBB2 (HER2) T862A lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). T862A results in constitutive phosphorylation of Erbb2 (Her2) and is transforming in cell culture (PMID: 22046346, PMID: 29533785, PMID: 29967253).
T862I missense unknown ERBB2 (HER2) T862I lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). T862I has been identified in sequencing studies (PMID: 24983367), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Aug 2020).
T862R missense gain of function - predicted ERBB2 (HER2) T862R lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). T862R results in increased Erbb2 (Her2) phosphorylation in cultured cells (PMID: 28164408), and therefore, is predicted to lead to a gain of Erbb2 (Her2) protein function.
T875I missense unknown ERBB2 (HER2) T875I lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). T875I has been identified in sequencing studies (PMID: 26645239), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
T875K missense unknown ERBB2 (HER2) T875K lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). T875K has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
T900S missense unknown ERBB2 (HER2) T900S lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). T900S has been identified in the scientific literature (PMID: 28679771), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
T911S missense unknown ERBB2 (HER2) T911S lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). T911S has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
T917S missense unknown ERBB2 (HER2) T917S lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). T917S has been identified in sequencing studies (PMID: 22510280), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
T948S missense unknown ERBB2 (HER2) T948S lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). T948S has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
V1128I missense no effect - predicted ERBB2 (HER2) V1128I lies within the cytoplasmic domain of the Erbb2 (Her2) protein (UniProt.org). V1128I does not lead to transformation of cells in culture (PMID: 29967253), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
V1255A missense unknown ERBB2 (HER2) V1255A lies within the cytoplasmic domain of the Erbb2 (Her2) protein (UniProt.org). V1255A retains basolateral localization similar to wild-type Erbb2 (Her2) in cell culture (PMID: 12192053), but has not been fully biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Nov 2020).
V308M missense unknown ERBB2 (HER2) V308M lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). V308M results in decreased cell proliferation and cell viability compared to wild-type Erbb2 (Her2) in one of two cell lines in culture (PMID: 29533785), however, has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
V480A missense unknown ERBB2 (HER2) V480A lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). The functional effect of V480A is conflicting, as it leads to transformation of cells in culture from one cell line, however, does not lead to transformation in another cell line in culture (PMID: 29967253), and therefore, its effect on Erbb2 (Her2) protein function is unknown.
V604_E619del deletion gain of function ERBB2 (HER2) V604_E619del results in the deletion of 16 amino acids in the extracellular domain of the Erbb2 (Her2) protein from amino acids 604 to 619 (UniProt.org). V604_E619del results in constitutive phosphorylation of Erbb2 (Her2), Egfr, Mek1/2, and Mapk, and is transforming in cell culture (PMID: 31135266).
V659E missense gain of function ERBB2 (HER2) V659E lies within the transmembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). V659E results in constitutive phosphorylation of Erbb2 (Her2), activation of Src and Akt signaling in cell culture, and increased tumor metastasis in animal models (PMID: 16489002, PMID: 15753384), and leads to increased cell survival as compared to wild-type Erbb2 (Her2) in culture (PMID: 30449325), and in one of two cell lines, V659E increased cell proliferation and cell viability as compared to wild-type Erbb2 (Her2) (PMID: 29533785).
V697L missense unknown ERBB2 (HER2) V697L lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). V697L has been identified in the scientific literature (PMID: 29247016, PMID: 28679771), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
V723M missense unknown ERBB2 (HER2) V723M lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). V723M has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
V725M missense unknown ERBB2 (HER2) V725M lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). V725M has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
V734D missense unknown ERBB2 (HER2) V734D lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). V734D has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
V734F missense unknown ERBB2 (HER2) V734F lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). V734F has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
V734I missense unknown ERBB2 (HER2) V734I lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). D873N has been identified in sequencing studies (PMID: 29636988), but not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
V746E missense unknown ERBB2 (HER2) V746E lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). V746E has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
V750E missense loss of function - predicted ERBB2 (HER2) V750E lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). V750E demonstrates reduced kinase activity in cell culture (PMID: 22908275), and therefore, is predicted to lead to a loss of Erbb2 (Her2) protein function.
V754M missense gain of function ERBB2 (HER2) V754M lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). V754M results in increased Erbb2 (Her2) phosphorylation and activation of downstream signaling, and is transforming in cell culutre (PMID: 31588020).
V773A missense gain of function ERBB2 (HER2) V773A lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). V773A results in constitutive phosphorylation of Erbb2 (Her2) and is transforming in cell culture (PMID: 22046346).
V773L missense gain of function ERBB2 (HER2) V773L lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). V773L confers a gain of function to the Erbb2 (Her2) protein as demonstrated by increased tyrosine kinase activity and phosphorylation compared to wild-type, and abnormal cellular morphology in culture (PMID: 27697991).
V773M missense unknown ERBB2 (HER2) V773M lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). V773M results in activation of Erbb2 downstream signaling, is transforming in cell culture, and confers resistance to selected tyrosine kinase inhibitors (PMID: 31588020), but also demonstrates similar levels of cell proliferation and viability as wild-type Erbb2 (Her2) (PMID: 29533785), and therefore, its effect on Erbb2 (Her2) protein function is unknown. Y
V777A missense loss of function ERBB2 (HER2) V777A lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). V777A results in decreased Erbb2 (Her2) activity and a decreased ability to transform cells in culture (PMID: 22908275).
V777E missense unknown ERBB2 (HER2) V777E lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). V777E has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
V777L missense gain of function ERBB2 (HER2) V777L lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). V777L results in increased Erbb2 (Her2) activity, activation of downstream signaling, transformation of cultured cells (PMID: 29967253, PMID: 31588020), increased tumor growth in xenograft models (PMID: 23220880), and confers resistance to selected tyrosine kinase inhibitors (PMID: 31588020). Y
V777M missense unknown ERBB2 (HER2) V777M lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). V777M has been identified in the scientific literature (PMID: 22761469, PMID: 28481359, PMID: 27284958), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
V777_G778insG insertion gain of function - predicted ERBB2 (HER2) V777_G778insG results in the insertion of a glycine (G) in the protein kinase domain of the Erbb2 (Her2) protein between amino acids 777 and 778 (UniProt.org). V777_G778insG has not been characterized, but can be predicted to result in a gain of function based on the effect of other Erbb2 (Her2) exon 20 insertions (PMID: 16843263, PMID: 17311002, PMID: 23220880).
V777_S779dup duplication gain of function - predicted ERBB2 (HER2) V777_S779dup (also referred to as S779_P780insVGS) indicates the insertion of three duplicate amino acids, valine (V)-777 through serine (S)-779, in the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). V777_S779dup has been demonstrated to confer Erbb2 (Her2) inhibitor resistance in culture (PMID: 29967253), but has not been biochemically characterized, however, other exon 20 insertions are activating (PMID: 16843263, PMID: 17311002, PMID: 23220880), and therefore, is predicted to lead to gain of Erbb2 (Her2) protein function.
V782I missense no effect - predicted ERBB2 (HER2) V782I lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). V782I has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Erbb2 (Her2) in culture (PMID: 29533785), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
V794L missense unknown ERBB2 (HER2) V794L lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). V794L has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
V797A missense unknown ERBB2 (HER2) V797A lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). V797A has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
V797E missense unknown ERBB2 (HER2) V797E lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). V797E has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
V797L missense unknown ERBB2 (HER2) V797L lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). V797L has been identified in the scientific literature (PMID: 32774506), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
V797M missense unknown ERBB2 (HER2) V797M lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). V797M has been identified in sequencing studies (PMID: 26517354), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
V810I missense unknown ERBB2 (HER2) V810I lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). V810I has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
V839G missense unknown ERBB2 (HER2) V839G lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). V839G confers Tykerb (lapatinib)-resistance in cell culture (PMID: 18413839), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020). Y
V842E missense unknown ERBB2 (HER2) V842E lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). V842E demonstrates decreased transformation ability as compared to wild-type Erbb2 (Her2) in one of two different cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
V842I missense unknown ERBB2 (HER2) V842I lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). V842I confers resistance to selected tyrosine kinase inhibitors (PMID: 31588020), results in increased Erbb2 (Her2) activity, downstream pathway activation, and transformation of cultured cells (PMID: 23220880, PMID: 31588020), however, in another study, demonstrates similar cell proliferation and viability levels to wild-type Erbb2 (Her2) in two different cell lines (PMID: 29533785), and therefore, its effect on Erbb2 (Her2) protein function is unknown. Y
V842L missense unknown ERBB2 (HER2) V842L lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). V842L has not been characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
V851M missense unknown ERBB2 (HER2) V851M lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). V851M has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
V853F missense unknown ERBB2 (HER2) V853F lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). V853F has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
V853I missense unknown ERBB2 (HER2) V853I lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). V853I has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
V859D missense unknown ERBB2 (HER2) V859D lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). V859D has not been characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
V859I missense unknown ERBB2 (HER2) V859I lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). V859I has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
V884M missense unknown ERBB2 (HER2) V884M lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). V884M has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
V905E missense unknown ERBB2 (HER2) V905E lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). V905E has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
V905M missense unknown ERBB2 (HER2) V905M lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). V905M has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
V910A missense unknown ERBB2 (HER2) V910A lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). V910A has been identified in sequencing studies (PMID: 28978093), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
V951F missense unknown ERBB2 (HER2) V951F lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). V951F has not been characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020)
V951I missense unknown ERBB2 (HER2) V951I lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). V951I has been identified in sequencing studies (PMID: 29420467), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
V956F missense unknown ERBB2 (HER2) V956F lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). V956F has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
V956I missense unknown ERBB2 (HER2) V956I lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). V956I has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
V987M missense unknown ERBB2 (HER2) V987M lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). V987M has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
W739* nonsense unknown ERBB2 (HER2) W739* results in a premature truncation of the Erbb2 (Her2) protein at amino acid 739 of 1255 (UniProt.org). W739* has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
W739C missense unknown ERBB2 (HER2) W739C lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). W739C has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
W825* nonsense unknown ERBB2 (HER2) W825* results in a premature truncation of the Erbb2 (Her2) protein at amino acid 825 of 1255 (UniProt.org). W825* has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
W888* nonsense unknown ERBB2 (HER2) W888* results in a premature truncation of the Erbb2 (Her2) protein at amino acid 888 of 1255 (UniProt.org). W888* has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
W906* nonsense unknown ERBB2 (HER2) W906* results in a premature truncation of the Erbb2 (Her2) protein at amino acid 906 of 1255 (UniProt.org). W906* has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
W906C missense unknown ERBB2 (HER2) W906C lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). W906C has been identified in sequencing studies (PMID: 30537512), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
W906L missense unknown ERBB2 (HER2) W906L lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). W906L has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
W959* nonsense unknown ERBB2 (HER2) W959* results in a premature truncation of the Erbb2 (Her2) protein at amino acid 959 of 1255 (UniProt.org). W959* has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
W959L missense unknown ERBB2 (HER2) W959L lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). W959L has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
wild-type none no effect Wild-type ERBB2 (HER2) indicates that no mutation has been detected within the ERBB2 (HER2) gene.
Y1248F missense loss of function ERBB2 (HER2) Y1248F lies within the cytoplasmic domain of the Erbb2 (Her2) protein (UniProt.org). Y1248F results in constitutive dephosphorylation of Erbb2 (Her2), which leads to endosomal internalization and lysosomal degradation of Erbb2 (Her2) in cell lines (PMID: 27345410), and fails to result in EGF-induced activation of Plcg1 and production of IP3 and DAG in cell culture (PMID: 12354693).
Y343C missense no effect - predicted ERBB2 (HER2) Y343C lies within the extracellular domain of the Erbb2 (Her2) protein (UniProt.org). Y343C does not lead to transformation of cells in culture (PMID: 29967253), and therefore, is predicted to have no effect on Erbb2 (Her2) protein function.
Y685* nonsense loss of function - predicted ERBB2 (HER2) Y685* results in a premature truncation of the Erbb2 (Her2) protein at amino acid 685 of 1255 (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), Y685* is predicted to lead to a loss of Erbb2 (Her2) protein function.
Y685C missense unknown ERBB2 (HER2) Y685C lies within the juxtamembrane domain of the Erbb2 (Her2) protein (PMID: 30449325). Y685C has been identified in sequencing studies (PMID: 25669975), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Nov 2020).
Y735N missense unknown ERBB2 (HER2) Y735N lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). Y735N has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
Y772Tfs*2 frameshift unknown ERBB2 (HER2) Y772Tfs*2 indicates a shift in the reading frame starting at amino acid 772 and terminating 2 residues downstream causing a premature truncation of the 1255 amino acid Erbb2 (Her2) protein (UniProt.org). Y772Tfs*2 has not been characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
Y772_A775dup duplication gain of function ERBB2 (HER2) Y772_A775dup (also referred to as A775_G776insYVMA, M774_A775insAYVM, E770_A771insAYVM, and E770delinsEAYVM) indicates the insertion of 4 duplicate amino acids, tyrosine (Y)-772 through alanine (A)-775, in the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). Y772_A775dup results in the constitutive phosphorylation of Erbb2 (Her2), activation of downstream signaling, is transforming in cell culture (PMID: 17311002, PMID: 31588020), and confers resistance to selected tyrosine kinase inhibitors (PMID: 31588020). Y
Y781C missense unknown ERBB2 (HER2) Y781C lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). Y781C has been identified in sequencing studies (PMID: 21274259), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020).
Y803H missense gain of function ERBB2 (HER2) Y803H lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). Y803H results in similar cell proliferation and viability levels as wild-type Erbb2 (Her2) (PMID: 29533785), but demonstrates increased kinase activity, and induces sphere formation and cell growth in culture (PMID: 30352910).
Y803N missense unknown ERBB2 (HER2) Y803N lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). Y803N is associated with Tykerb (lapatinib)-resistance in cell culture (PMID: 18413839), but has not been biochemically characterized and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Oct 2020). Y
Y835F missense unknown ERBB2 (HER2) Y835F lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). Y835F results in decreased Erbb2 (Her2) kinase activity, reduced cell proliferation, and is not transforming in culture in one study (PMID: 23220880), and in another study, results in similar cell proliferation and viability levels to wild-type Erbb2 (Her2) in two different cell lines (PMID: 29533785), and therefore its effect on Erbb2 (Her2) protein function is unknown.
Y908C missense unknown ERBB2 (HER2) Y908C lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). Y908C has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
Y908F missense unknown ERBB2 (HER2) Y908F lies within the protein kinase domain of the Erbb2 (Her2) protein (UniProt.org). Y908F has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Feb 2021).
Y923* nonsense unknown ERBB2 (HER2) Y923* results in a premature truncation of the Erbb2 (Her2) protein at amino acid 923 of 1255 (UniProt.org). Y923* has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).
Y952* nonsense unknown ERBB2 (HER2) Y952* results in a premature truncation of the Erbb2 (Her2) protein at amino acid 952 of 1255 (UniProt.org). Y952* has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Jan 2021).