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Gene Symbol ERBB4
Synonyms ALS19 | HER4 | p180erbB4
Gene Description ERBB4, erb-b2 receptor tyrosine kinase 4, encodes HER4, an ERBB family member that plays a role in cell survival and differentiation (PMID: 12648466). ERBB4 activating mutations are frequent in melanoma and have been demonstrated in lung adenocarcinoma (PMID: 19718025, PMID: 26050618).

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A1083V missense unknown ERBB4 A1083V lies within the cytoplasmic domain of the Erbb4 protein (UniProt.org). A1083V has been identified in sequencing studies (PMID: 29141224), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jun 2020).
A1130S missense unknown ERBB4 A1130S lies within the cytoplasmic domain of the Erbb4 protein (UniProt.org). A1130S has been identified in the scientific literature (PMID: 30111351), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jun 2020).
A1136D missense unknown ERBB4 A1136D lies within the cytoplasmic domain of the Erbb4 protein (UniProt.org). A1136D has not been characterized in the scientific literature and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jun 2020).
A455T missense unknown ERBB4 A455T lies within the extracellular domain of the Erbb4 protein (UniProt.org). A455T has been identified in sequencing studies (PMID: 30181556, PMID: 23028188), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jun 2020).
A672D missense unknown ERBB4 A672D lies within the transmembrane domain of the Erbb4 protein (UniProt.org). A672D has not been characterized in the scientific literature and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jun 2020).
A828D missense unknown ERBB4 A828D lies within the protein kinase domain of the Erbb4 protein (UniProt.org). A828D has not been characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jun 2020).
A845V missense unknown ERBB4 A845V lies within the protein kinase domain of the Erbb4 protein (UniProt.org). A845V has been identified in sequencing studies (PMID: 22722202), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jun 2020).
A877S missense unknown ERBB4 A877S lies within the protein kinase domain of the Erbb4 protein (UniProt.org). A877S has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jun 2020).
A888T missense unknown ERBB4 A888T lies within the protein kinase domain of the Erbb4 protein (UniProt.org). A888T has not been characterized in the scientific literature and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jun 2020).
act mut unknown gain of function ERBB4 (HER4) act mut indicates that this variant results in a gain of function in the Erbb4 (Her4) protein. However, the specific amino acid change has not been identified.
amp none no effect ERBB4 (HER4) amp indicates an increased number of copies of the ERBB4 (HER4) gene. However, the mechanism causing the increase is unspecified.
C217R missense unknown ERBB4 C217R lies within the extracellular domain of the Erbb4 protein (UniProt.org). C217R has been identified in sequencing studies (PMID: 18186519), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
C234Y missense unknown ERBB4 C234Y lies within the extracellular domain of the Erbb4 protein (UniProt.org). C234Y has been identified in the scientific literature (PMID: 32265839), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jun 2020).
C293F missense unknown ERBB4 C293F lies within the extracellular domain of the Erbb4 protein (UniProt.org). C293F has not been characterized in the scientific literature and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jun 2020).
C304F missense unknown ERBB4 C304F lies within the extracellular domain of the Erbb4 protein (UniProt.org). C304F has not been characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
C56Y missense unknown ERBB4 C56Y lies within the extracellular domain of the Erbb4 protein (UniProt.org). C56Y has not been characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jun 2020).
C589F missense unknown ERBB4 C589F lies within the extracellular domain of the Erbb4 protein (UniProt.org). C589F has been identified in sequencing studies (PMID: 28196074, PMID: 28007623), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jun 2020).
C589R missense unknown ERBB4 C589R lies within the extracellular domain of the Erbb4 protein (UniProt.org). C589R has not been characterized in the scientific literature and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jun 2020).
C593F missense unknown ERBB4 C593F lies within the extracellular domain of the Erbb4 protein (UniProt.org). C593F has not been characterized in the scientific literature and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jun 2020).
C803S missense unknown ERBB4 C803S lies within the protein kinase domain of the Erbb4 protein (UniProt.org). C803S has not been characterized in the scientific literature and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jun 2020).
D1104Y missense unknown ERBB4 D1104Y lies within the cytoplasmic domain of the Erbb4 protein (UniProt.org). D1104Y has not been characterized in the scientific literature and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
D245G missense no effect ERBB4 D245G lies within the extracellular domain of the Erbb4 protein (UniProt.org). D245G demonstrates phosphorylation levels similar to wild-type Erbb4 and is not transforming in culture (PMID: 26826182).
D335N missense unknown ERBB4 D335N lies within the extracellular domain of the Erbb4 protein (UniProt.org). D335N has been identified in sequencing studies (PMID: 24983367), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jun 2020).
D518G missense unknown ERBB4 D518G lies within the extracellular domain of the Erbb4 protein (UniProt.org). D518G has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jun 2020).
D595V missense gain of function ERBB4 D595V lies within the extracellular domain of the Erbb4 protein (UniProt.org). D595V confers a gain of function to the Erbb4 protein as demonstrated by increased receptor dimerization, transactivation, and Erbb4 phosphorylation (PMID: 26050618).
D609N missense unknown ERBB4 D609N lies within the extracellular domain of the Erbb4 protein (UniProt.org). D609N has been identified in the scientific literature (PMID: 20404484), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jun 2020).
D931Y missense gain of function ERBB4 D931Y lies within the protein kinase domain of the Erbb4 protein (UniProt.org). D931Y confers a gain of function to the Erbb4 protein as demonstrated by increased receptor transactivation, heterdimerization with Erbb2 (Her2), and increased Erbb4 phosphorylation (PMID: 26050618).
D991N missense unknown ERBB4 D991N lies within the cytoplasmic domain of the Erbb4 protein (UniProt.org). D991N has been identified in sequencing studies (PMID: 30337457), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
E1121D missense unknown ERBB4 E1121D lies within the cytoplasmic domain of the Erbb4 protein (UniProt.org). E1121D has not been characterized in the scientific literature and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jun 2020).
E1144* nonsense unknown ERBB4 E1144* results in a premature truncation of the Erbb4 protein at amino acid 1144 of 1308 (UniProt.org). E1144* has not been characterized in the scientific literature and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
E317K missense gain of function ERBB4 E317K lies within the extracellular domain of the Erbb4 protein (UniProt.org). E317K results in constitutive phosphorylation of Erbb4, increased cell proliferation and is transforming in cell culture (PMID: 19718025).
E387D missense unknown ERBB4 E387D lies within the extracellular domain of the Erbb4 protein (UniProt.org). E387D has not been characterized in the scientific literature and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jun 2020).
E397A missense unknown ERBB4 E397A lies within the extracellular domain of the Erbb4 protein (UniProt.org). E397A has not been characterized in the scientific literature and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jun 2020).
E452K missense gain of function ERBB4 E452K lies within the extracellular domain of the Erbb4 protein (UniProt.org). E452K results in constitutive phosphorylation of Erbb4, increased cell proliferation and is transforming in cell culture (PMID: 19718025).
E542K missense gain of function ERBB4 E542K lies within the extracellular domain of the Erbb4 protein (UniProt.org). E542K results in increased Erbb4 kinase activity and is transforming in cultured cells (PMID: 19718025).
E560K missense unknown ERBB4 E560K lies within the extracellular domain of the Erbb4 protein (UniProt.org). E560K has not been characterized in the scientific literature and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jun 2020).
E563K missense gain of function ERBB4 E563K lies within the extracellular domain of the Erbb4 protein (UniProt.org). E563K results in constitutive phosphorylation of Erbb4, increased cell proliferation and is transforming in cell culture (PMID: 19718025).
E57K missense no effect ERBB4 E57K lies within the extracellular domain of the Erbb4 protein (UniProt.org). E57K results in autophosphorylation, cellular proliferation and colony formation similar to wild-type Erbb4 in culture (PMID: 30975989).
E57V missense unknown ERBB4 E57V lies within the extracellular domain of the Erbb4 protein (UniProt.org). E57V has not been characterized in the scientific literature and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jun 2020).
E693D missense unknown ERBB4 E693D lies within the cytoplasmic domain of the Erbb4 protein (UniProt.org). E693D has not been characterized in the scientific literature and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jun 2020).
E836K missense gain of function ERBB4 E836K lies within the protein kinase domain of the Erbb4 protein (UniProt.org). E836K results in constitutive phosphorylation of Erbb4, increased cell proliferation and is transforming in cell culture (PMID: 19718025).
E872K missense gain of function ERBB4 E872K lies within the protein kinase domain of the Erbb4 protein (UniProt.org). E872K results in constitutive phosphorylation of Erbb4, increased cell proliferation and is transforming in cell culture (PMID: 19718025).
E874* nonsense unknown ERBB4 E874* results in a premature truncation of the Erbb4 protein at amino acid 874 of 1308 (UniProt.org). E874* has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jun 2020).
E928* nonsense unknown ERBB4 E928* results in a premature truncation of the Erbb4 protein at amino acid 928 of 1308 (UniProt.org). E928* has not been characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jun 2020).
E934K missense unknown ERBB4 E934K lies within the protein kinase domain of the Erbb4 protein (UniProt.org). E934K has been identified in sequencing studies (PMID: 26933808, PMID: 26010451, PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jun 2020).
F1003L missense unknown ERBB4 F1003L lies within the cytoplasmic domain of the Erbb4 protein (UniProt.org). F1003L has been identified in sequencing studies (PMID: 29793804), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jun 2020).
F1267L missense unknown ERBB4 F1267L lies within the cytoplasmic domain of the Erbb4 protein (UniProt.org). F1267L has not been characterized in the scientific literature and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jun 2020).
F252L missense unknown ERBB4 F252L lies within the extracellular domain of the Erbb4 protein (UniProt.org). F252L has not been characterized in the scientific literature and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jun 2020).
G107V missense unknown ERBB4 G107V lies within the extracellular domain of the Erbb4 protein (UniProt.org). G107V has been identified in sequencing studies (PMID: 25530832), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jun 2020).
G1109C missense gain of function ERBB4 G1109C lies within the cytoplasmic domain of the Erbb4 protein (UniProt.org). G1109C confers a gain of function to the Erbb4 protein as demonstrated by increased phosphorylation of Erbb4 compared to wild-type and the ability to transform cells (PMID: 27207775).
G130E missense unknown ERBB4 G130E lies within the extracellular domain of the Erbb4 protein (UniProt.org). G130E has not been characterized in the scientific literature and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jun 2020).
G456E missense unknown ERBB4 G456E lies within the extracellular domain of the Erbb4 protein (UniProt.org). G456E has not been characterized in the scientific literature and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
G516V missense unknown ERBB4 G516V lies within the extracellular domain of the Erbb4 protein (UniProt.org). G516V has not been characterized in the scientific literature and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jun 2020).
G516W missense unknown ERBB4 G516W lies within the extracellular domain of the Erbb4 protein (UniProt.org). G516W has not been characterized in the scientific literature and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jun 2020).
G727D missense unknown ERBB4 G727D lies within the protein kinase domain of the Erbb4 protein (UniProt.org). G727D has not been characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jun 2020).
G880R missense unknown ERBB4 G880R lies within the protein kinase domain of the Erbb4 protein (UniProt.org). G880R has not been characterized in the scientific literature and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jun 2020).
G907E missense unknown ERBB4 G907E lies within the protein kinase domain of the Erbb4 protein (UniProt.org). G907E has been identified in sequencing studies (PMID: 28356599), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
G917V missense unknown ERBB4 G917V lies within the protein kinase domain of the Erbb4 protein (UniProt.org). G917V has not been characterized in the scientific literature and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
G936R missense gain of function - predicted ERBB4 G936R lies within the protein kinase domain of the Erbb4 protein (UniProt.org). G936R has not been biochemically characterized, but is predicted to result in increased Erbb4 dimerization affinity leading to a gain of function (PMID: 21701703).
H295Q missense unknown ERBB4 H295Q lies within the extracellular domain of the Erbb4 protein (UniProt.org). H295Q has been identified in sequencing studies (PMID: 22722201), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
H618P missense no effect - predicted ERBB4 H618P lies within the extracellular domain of the Erbb4 protein (UniProt.org). H618P does not alter Erbb4 protein function in cell culture (PMID: 26050618) and therefore, is predicted to have no effect on Erbb4 protein function.
H841Q missense unknown ERBB4 H841Q lies within the protein kinase domain of the Erbb4 protein (UniProt.org). H841Q has not been characterized in the scientific literature and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
I161M missense unknown ERBB4 I161M lies within the extracellular domain of the Erbb4 protein (UniProt.org). I161M has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
I166N missense unknown ERBB4 I166N lies within the extracellular domain of the Erbb4 protein (UniProt.org). I166N has been identified in sequencing studies (PMID: 30115035, PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
I658F missense unknown ERBB4 I658F lies within the transmembrane domain of the Erbb4 protein (UniProt.org). I658F has been identified in sequencing studies (PMID: 29212173, PMID: 25925381), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jun 2020).
I771T missense unknown ERBB4 I771T lies within the protein kinase domain of the Erbb4 protein (UniProt.org). I771T has not been characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
I827R missense unknown ERBB4 I827R lies within the protein kinase domain of the Erbb4 protein (UniProt.org). I827R has not been characterized in the scientific literature and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
inact mut unknown loss of function ERBB4 inact mut indicates that this variant results in a loss of function of the Erbb4 protein. However, the specific amino acid change has not been identified.
K1002N missense unknown ERBB4 K1002N lies within the cytoplasmic domain of the Erbb4 protein (UniProt.org). K1002N has been identified in sequencing studies (PMID: 28069802), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
K1291N missense unknown ERBB4 K1291N lies within the cytoplasmic domain of the Erbb4 protein (UniProt.org). K1291N has not been characterized in the scientific literature and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
K751M missense loss of function ERBB4 K751M lies within the protein kinase domain of the Erbb4 protein (UniProt.org). K751M results in a loss of Erbb4 protein function as demonstrated by a loss of kinase activity in cell culture (PMID: 19718025, PMID: 21110957).
K751Q missense unknown ERBB4 K751Q lies within the protein kinase domain of the Erbb4 protein (UniProt.org). K751Q has not been characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
K751T missense unknown ERBB4 K751T lies within the protein kinase domain of the Erbb4 protein (UniProt.org). K751T has not been characterized in the scientific literature and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
K812N missense unknown ERBB4 K812N lies within the protein kinase domain of the Erbb4 protein (UniProt.org). K812N has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
K935I missense gain of function ERBB4 K935I lies within the protein kinase domain of the Erbb4 protein (UniProt.org). K935I confers a gain of function to the Erbb4 protein as demonstrated by increased Erbb4 receptor transactivation and increased cell survival (PMID: 26050618).
L1008V missense unknown ERBB4 L1008V lies within the cytoplasmic domain of the Erbb4 protein (UniProt.org). L1008V has not been characterized in the scientific literature and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
L134P missense unknown ERBB4 L134P lies within the extracellular domain of the Erbb4 protein (UniProt.org). L134P has not been characterized in the scientific literature and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
L155F missense unknown ERBB4 L155F lies within the extracellular domain of the Erbb4 protein (UniProt.org). L155F has been identified in sequencing studies (PMID: 25759019), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
L369I missense unknown ERBB4 L369I lies within the extracellular domain of the Erbb4 protein (UniProt.org). L369I has been identified in the scientific literature (PMID: 23340734), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
L420M missense unknown ERBB4 L420M lies within the extracellular domain of the Erbb4 protein (UniProt.org). L420M has not been characterized in the scientific literature and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
L521M missense unknown ERBB4 L521M lies within the extracellular domain of the Erbb4 protein (UniProt.org). L521M has been identified in sequencing studies (PMID: 25326804), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
L694V missense unknown ERBB4 L694V lies within the cytoplasmic domain of the Erbb4 protein (UniProt.org). L694V has not been characterized in the scientific literature and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
L864P missense unknown ERBB4 L864P lies within the protein kinase domain of the Erbb4 protein (UniProt.org). L864P has not been characterized in the scientific literature and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
M250I missense unknown ERBB4 M250I lies within the extracellular domain of the Erbb4 protein (UniProt.org). M250I has been identified in sequencing studies (PMID: 27756406), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Feb 2020).
M313I missense unknown ERBB4 M313I lies within the extracellular domain of the Erbb4 protein (UniProt.org). M313I has been identified in sequencing studies (PMID: 19718025), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
M882I missense unknown ERBB4 M882I lies within the protein kinase domain of the Erbb4 protein (UniProt.org). M882I has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
mutant unknown unknown ERBB4 mutant indicates an unspecified mutation in the ERBB4 gene.
N1044D missense unknown ERBB4 N1044D lies within the cytoplasmic domain of the Erbb4 protein (UniProt.org). N1044D has not been characterized in the scientific literature and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
N181S missense gain of function - predicted ERBB4 N181S lies within the extracellular domain of the Erbb4 protein (UniProt.org). N181S is predicted to confer a gain of function to the Erbb4 protein, as demonstrated by the ability to enhance Erbb2 ligand dependent activation in the context of Erbb4-Erbb2 dimerized receptors (PMID: 26050618).
N352S missense unknown ERBB4 N352S lies within the extracellular domain of the Erbb4 protein (UniProt.org). N352S has not been characterized in the scientific literature and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
N855K missense unknown ERBB4 N855K lies within the protein kinase domain of the Erbb4 protein (UniProt.org). N855K has not been characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jun 2020).
over exp none no effect ERBB4 over exp indicates an over expression of the Erbb4 protein. However, the mechanism causing the over expression is unspecified.
P1033S missense gain of function - predicted ERBB4 P1033S lies within the PPxY motif 1 of the Erbb4 protein (UniProt.org). P1033S results in increased basal Erbb4 phosphorylation and is not sensitive to TPA-induced feedback inhibition in culture (PMID: 31053301), and therefore, is predicted to lead to a gain of Erbb4 protein function.
P1116L missense unknown ERBB4 P1116L (corresponds to P1132L in the canonical isoform) lies within the cytoplasmic domain of the Erbb4 protein (UniProt.org). P1116L has been identified in the scientific literature (PMID: 30503610), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Feb 2020).
P224L missense unknown ERBB4 P224L lies within the extracellular domain of the Erbb4 protein (UniProt.org). P224L has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
P377R missense gain of function ERBB4 P377R lies within the extracellular domain of the Erbb4 protein (UniProt.org). P377R results in increased autophosphorylation, cellular proliferation and colony formation as compared to wild-type Erbb4 in culture (PMID: 30975989).
P386Q missense unknown ERBB4 P386Q lies within the extracellular domain of the Erbb4 protein (UniProt.org). P386Q has been identified in sequencing studies (PMID: 26168399, PMID: 22941188), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
P594Q missense unknown ERBB4 P594Q lies within the extracellular domain of the Erbb4 protein (UniProt.org). P594Q has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
P619L missense unknown ERBB4 P619L lies within the extracellular domain of the Erbb4 protein (UniProt.org). P619L has been identified in sequencing studies (PMID: 21984974, PMID: 25343854), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
P697S missense unknown ERBB4 P697S lies within the cytoplasmic domain of the Erbb4 protein (UniProt.org). P697S has not been characterized in the scientific literature and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
P920R missense unknown ERBB4 P920R lies within the protein kinase domain of the Erbb4 protein (UniProt.org). P920R has not been characterized in the scientific literature and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
Q44E missense unknown ERBB4 Q44E lies within the extracellular domain of the Erbb4 protein (UniProt.org). Q44E has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
Q941* nonsense unknown ERBB4 Q941* results in a premature truncation of the Erbb4 protein at amino acid 941 of 1308 (UniProt.org). Q941* has been identified in the scientific literature (PMID: 31837433), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Feb 2020).
R106C missense unknown ERBB4 R106C lies within the extracellular domain of the Erbb4 protein (UniProt.org). R106C has been identified in sequencing studies (PMID: 25855536, PMID: 24589925), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
R1139L missense unknown ERBB4 R1139L lies within the cytoplasmic domain of the Erbb4 protein (UniProt.org). R1139L has not been characterized in the scientific literature and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
R168W missense unknown ERBB4 R168W lies within the extracellular domain of the Erbb4 protein (UniProt.org). R168W has been identified in sequencing studies (PMID: 22895193, PMID: 28822769), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
R196C missense unknown ERBB4 R196C lies within the extracellular domain of the Erbb4 protein (UniProt.org). R196C has not been characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
R306S missense gain of function - predicted ERBB4 R306S lies within the extracellular domain of the Erbb4 protein (UniProt.org). R306S is predicted to confer a gain of function to the Erbb4 protein, as demonstrated by increased basal phosphorylation of Erbb4 (PMID: 26050618).
R393W missense unknown ERBB4 R393W lies within the extracellular domain of the Erbb4 protein (UniProt.org). R393W has been identified in the scientific literature (PMID: 24258993), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
R488W missense unknown ERBB4 R488W lies within the extracellular domain of the Erbb4 protein (UniProt.org). R488W has been identified in sequencing studies (PMID: 25822088, PMID: 27877056, PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
R50C missense unknown ERBB4 R50C lies within the extracellular domain of the Erbb4 protein (UniProt.org). R50C has been identified in sequencing studies (PMID: 25583476), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
R524C missense unknown ERBB4 R524C lies within the extracellular domain of the Erbb4 protein (UniProt.org). R524C has been identified in sequencing studies (PMID: 22817889), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
R525S missense unknown ERBB4 R525S lies within the extracellular domain of the Erbb4 protein (UniProt.org). R525S has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
R544W missense gain of function ERBB4 R544W lies within the extracellular domain of the Erbb4 protein (UniProt.org). R544W results in constitutive phosphorylation of Erbb4, increased cell proliferation and is transforming in cell culture (PMID: 19718025).
R711C missense unknown ERBB4 R711C lies within the cytoplasmic domain of the Erbb4 protein (UniProt.org). R711C has been identified in sequencing studies (PMID: 26343386, PMID: 27592799), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
R711L missense unknown ERBB4 R711L lies within the cytoplasmic domain of the Erbb4 protein (UniProt.org). R711L has not been characterized in the scientific literature and therefore, its effect on Erbb4 protein function is unknown (PubMed, Feb 2020).
R81* nonsense loss of function - predicted ERBB4 R81* results in a premature truncation of the Erbb4 protein at amino acid 81 of 1308 (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), R81* is predicted to lead to a loss of Erbb4 function.
R842Q missense unknown ERBB4 R842Q lies within the protein kinase domain of the Erbb4 protein (UniProt.org). R842Q has been identified in sequencing studies (PMID: 26674132), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
R95C missense unknown ERBB4 R95C lies within the extracellular domain of the Erbb4 protein (UniProt.org). R95C has been identified in sequencing studies (PMID: 31660073, PMID: 29937994), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jun 2020).
R992C missense unknown ERBB4 R992C lies within the cytoplasmic domain of the Erbb4 protein (UniProt.org). R992C has not been characterized in the scientific literature and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
S1043L missense unknown ERBB4 S1043L lies within the cytoplasmic domain of the Erbb4 protein (UniProt.org). S1043L has not been characterized in the scientific literature and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
S303Y missense unknown ERBB4 S303Y lies within the extracellular domain of the Erbb4 protein (UniProt.org). S303Y has been identified in sequencing studies (PMID: 16140923, PMID: 26517354), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
S341L missense unknown ERBB4 S341L lies within the extracellular domain of the Erbb4 protein (UniProt.org). S341L has been identified in the scientific literature (PMID: 31361375, PMID: 20404484, PMID: 24258993), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jan 2020).
S479I missense unknown ERBB4 S479I lies within the extracellular domain of the Erbb4 protein (UniProt.org). S479I has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
S774G missense unknown ERBB4 S774G lies within the protein kinase domain of the Erbb4 protein (UniProt.org). S774G has been identified in the scientific literature (PMID: 30269082), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Mar 2020).
T1110I missense unknown ERBB4 T1110I lies within the cytoplasmic domain of the Erbb4 protein (UniProt.org). T1110I has not been characterized in the scientific literature and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
T140I missense unknown ERBB4 T140I lies within the extracellular domain of the Erbb4 protein (UniProt.org). T140I has been identified in sequencing studies (PMID: 22586465), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
T19A missense unknown ERBB4 T19A does not lie within any known functional domains of the Erbb4 protein (UniProt.org). T19A has been identified in sequencing studies (PMID: 25275298), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jun 2020).
T244R missense no effect - predicted ERBB4 T244R lies within the extracellular domain of the Erbb4 protein (UniProt.org). T244R does not alter Erbb4 activation in cultured cells (PMID: 26050618) and therefore, is predicted to have no effect on Erbb4 protein function.
T480fs frameshift loss of function - predicted ERBB4 T480fs results in a change in the amino acid sequence of the Erbb4 protein beginning at aa 480 of 1308, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), T480fs is predicted to lead to a loss of Erbb4 function.
T731M missense unknown ERBB4 T731M lies within the protein kinase domain of the Erbb4 protein (UniProt.org). T731M has been identified in the scientific literature (PMID: 30926633), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Feb 2020).
T898S missense unknown ERBB4 T898S lies within the protein kinase domain of the Erbb4 protein (UniProt.org). T898S has been identified in sequencing studies (PMID: 30503610, PMID: 25583476), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jun 2020).
T915S missense unknown ERBB4 T915S lies within the protein kinase domain of the Erbb4 protein (UniProt.org). T915S has not been characterized in the scientific literature and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jun 2020).
V212G missense unknown ERBB4 V212G lies within the extracellular domain of the Erbb4 protein (UniProt.org). V212G has not been characterized in the scientific literature and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jun 2020).
V348L missense no effect - predicted ERBB4 V348L lies within the extracellular domain of the Erbb4 protein (UniProt.org). V348L does not result in increased Erbb4 activation in cell culture (PMID: 26050618) ad therefore, is predicted to have no effect on Erbb4 protein function.
V391I missense gain of function ERBB4 V391I lies within the extracellular domain of the Erbb4 protein (UniProt.org). V391I results in increased autophosphorylation, cellular proliferation and colony formation as compared to wild-type Erbb4 in culture (PMID: 30975989).
V421L missense unknown ERBB4 V421L lies within the extracellular domain of the Erbb4 protein (UniProt.org). V421L has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
V59D missense unknown ERBB4 V59D lies within the extracellular domain of the Erbb4 protein (UniProt.org). V59D has been identified in sequencing studies (PMID: 22037554), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
V732F missense unknown ERBB4 V732F lies within the protein kinase domain of the Erbb4 protein (UniProt.org). V732F has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
V903F missense unknown ERBB4 V903F lies within the protein kinase domain of the Erbb4 protein (UniProt.org). V903F has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
W171* nonsense loss of function - predicted ERBB4 W171* results in a premature truncation of the Erbb4 protein at amino acid 171 of 1308 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), W171* is predicted to lead to a loss of Erbb4 function.
W823C missense unknown ERBB4 W823C lies within the protein kinase domain of the Erbb4 protein (UniProt.org). W823C has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
wild-type none no effect Wild-type ERBB4 indicates that no mutation has been detected within the ERBB4 gene.
Y111H missense unknown ERBB4 Y111H lies within the extracellular domain of the Erbb4 protein (UniProt.org). Y111H has been identified in the scientific literature (PMID: 20404484, PMID: 19718025), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jul 2020).
Y1301C missense unknown ERBB4 Y1301C lies within the PPxY motif 3 of the Erbb4 protein (UniProt.org). Y1301C has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Jun 2020).
Y285C missense gain of function ERBB4 Y285C lies within the extracellular domain of the Erbb4 protein (UniProt.org). Y285C confers a gain of function to the Erbb4 protein as demonstrated by increased receptor dimerization, transactivation, and Erbb4 phosphorylation (PMID: 26050618).