ERBB3 A232V
Gene Variant Detail

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Gene ERBB3
Variant A232V
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions ERBB3 (HER3) A232V lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). A232V confers a gain to Erbb3 (Her3) as demonstrated by increased phosphorylation of Akt and Erk and transformation of Erbb2 (Her2) expressing cells in culture (PMID: 23680147).
Associated Drug Resistance
Category Variants Paths

ERBB3 mutant ERBB3 act mut ERBB3 A232V

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Transcript NM_001982.4
gDNA chr12:g.56087876C>T
cDNA c.695C>T
Protein p.A232V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001982.3 chr12:g.56087876C>T c.695C>T p.A232V RefSeq GRCh38/hg38
NM_001982.4 chr12:g.56087876C>T c.695C>T p.A232V RefSeq GRCh38/hg38
NM_001982 chr12:g.56087876C>T c.695C>T p.A232V RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. 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 on a longer phrase with spaces (i.e. "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.
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ERBB3 A232V Advanced Solid Tumor sensitive Lapatinib Preclinical Actionable In a preclinical study, Tykerb (lapatinib) inhibited proliferation and colony formation in transformed cell lines expressing ERBB3 (HER3) A232V (PMID: 23680147). 23680147
ERBB3 A232V Advanced Solid Tumor sensitive Trastuzumab Preclinical - Cell culture Actionable In a preclinical study, Herceptin (trastuzumab) inhibited cell proliferation in transformed cell lines expressing ERBB3 (HER3) A232V in culture (PMID: 23680147). 23680147
ERBB3 A232V Advanced Solid Tumor sensitive Pertuzumab Preclinical - Cell culture Actionable In a preclinical study, Perjeta (pertuzumab) inhibited cell proliferation in transformed cell lines expressing ERBB3 (HER3) A232V in culture (PMID: 23680147). 23680147
ERBB3 A232V Advanced Solid Tumor sensitive Pictilisib Preclinical - Cell culture Actionable In a preclinical study, Pictilisib (GDC-0941) inhibited cell proliferation in transformed cell lines expressing ERBB3 (HER3) A232V in culture (PMID: 23680147). 23680147
ERBB3 A232V breast cancer sensitive Patritumab deruxtecan Preclinical - Cell culture Actionable In a preclinical study, Patritumab deruxtecan (U3-1402) treatment inhibited growth of a breast cancer cell line expressing ERBB3 (HER3) A232V in culture (PMID: 35503762). 35503762