Gene Variant Detail

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Gene ERBB2
Variant S653C
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions 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).
Associated Drug Resistance

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Transcript NM_004448
gDNA chr17:g.39723330C>G
cDNA c.1958C>G
Protein p.S653C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004448 chr17:g.39723330C>G c.1958C>G p.S653C RefSeq GRCh38/hg38
NM_001289937 chr17:g.39723330C>G c.1958C>G p.S653C RefSeq GRCh38/hg38

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.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ERBB2 S653C urinary bladder cancer decreased response Selumetinib Preclinical Actionable In a preclinical study, bladder cancer cells over expressing ERBB2 (HER2) S653C demonstrated reduced sensitivity to Selumetinib (AZD6244) in culture (PMID: 24971884). 24971884
ERBB2 S653C urinary bladder cancer sensitive Lapatinib Preclinical Actionable In a preclinical study, Tykerb (lapatinib) inhibited foci formation of bladder cancer cells over expressing ERBB2 (HER2) S653C in culture (PMID: 24971884). 24971884
ERBB2 S653C urinary bladder cancer sensitive Afatinib Preclinical Actionable In a preclinical study, Gilotrif (afatinib) inhibited foci formation of bladder cancer cells over expressing ERBB2 (HER2) S653C in culture (PMID: 24971884). 24971884
Molecular Profile Protein Effect Treatment Approaches
ERBB2 S653C gain of function HER inhibitor (Pan) HER2 Inhibitor