ERBB3 V104M
Gene Variant Detail

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Gene ERBB3
Variant V104M
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ERBB3 (HER3) V104M lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). V104M results in increased viability (PMID: 38751013), phosphorylation of Akt and Erk, and transformation in Erbb2 (Her2)-expressing cells in culture (PMID: 23680147), however, demonstrates cell proliferation and viability (PMID: 29533785) in the context of endogenous Erbb2 (Her2), and viability and downstream signaling in cells expressing ERBB2 (HER2) V956R (PMID: 38806620) similar to wild-type Erbb3 (Her3) in culture, and therefore, its effect on Erbb3 (Her3) protein function is unknown.
Associated Drug Resistance
Category Variants Paths

ERBB3 mutant ERBB3 V104M

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Transcript NM_001982.4
gDNA chr12:g.56085070G>A
cDNA c.310G>A
Protein p.V104M
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001982.4 chr12:g.56085070G>A c.310G>A p.V104M RefSeq GRCh38/hg38
NM_001005915 chr12:g.56085070G>A c.310G>A p.V104M RefSeq GRCh38/hg38
NM_001982 chr12:g.56085070G>A c.310G>A p.V104M RefSeq GRCh38/hg38
NM_001005915.1 chr12:g.56085070G>A c.310G>A p.V104M RefSeq GRCh38/hg38
NM_001005915.1 chr12:g.56085070G>A c.310G>A p.V104M RefSeq GRCh38/hg38
NM_001982.3 chr12:g.56085070G>A c.310G>A p.V104M 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

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ERBB3 mutant Advanced Solid Tumor no benefit Neratinib Phase II Actionable In a Phase II trial (SUMMIT), Nerlynx (neratinib) treatment resulted in no objective response, a clinical benefit rate of 12.5% (2/16), and a median progression-free survival of 1.7 months in patients with advanced solid tumors harboring ERBB3 (HER3) mutations (PMID: 29420467; NCT01953926). 29420467
ERBB3 mutant invasive bladder transitional cell carcinoma predicted - sensitive Cisplatin + Gemcitabine + Sorafenib Phase II Actionable In a Phase II trial, ERBB3 mutations were only detected in patients with muscle-invasive urothelial bladder cancer that responded to Nexavar (sorafenib), Platinol (cisplatin) and Gemzar (gemcitabine) combination therapy (J Clin Oncol 35, 2017 (suppl 6S; abstract 345)). detail...