ERBB3 Q809R
Gene Variant Detail

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Gene ERBB3
Variant Q809R
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions ERBB3 (HER3) Q809R lies within the protein kinase domain of the Erbb3 (Her3) protein (UniProt.org). Q809R confers a gain of Erbb3 (Her3) protein function, resulting in phosphorylation of Akt and Erk, as well as oncogenic transformation of Erbb2 (Her2) expressing cells (PMID: 23680147).
Associated Drug Resistance
Category Variants Paths

ERBB3 mutant ERBB3 act mut ERBB3 Q809R

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Transcript NM_001982.4
gDNA chr12:g.56097196A>G
cDNA c.2426A>G
Protein p.Q809R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001982.4 chr12:g.56097196A>G c.2426A>G p.Q809R RefSeq GRCh38/hg38
NM_001982.3 chr12:g.56097196A>G c.2426A>G p.Q809R RefSeq GRCh38/hg38
NM_001982 chr12:g.56097196A>G c.2426A>G p.Q809R 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")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ERBB3 act mut Advanced Solid Tumor sensitive Lapatinib Preclinical - Cell culture Actionable In a preclinical study, Tykerb (lapatinib) inhibited proliferation and colony formation in transformed cell lines expressing ERBB3 (HER3) activating mutations (PMID: 23680147). 23680147
ERBB3 act mut Advanced Solid Tumor no benefit Neratinib + Trametinib Phase I Actionable In a Phase I trial, treatment with the combination of Nerlynx (neratinib) and Mekinist (trametinib) demonstrated toxicity and limited efficacy in patients with advanced solid tumors harboring EGFR or ERBB2 (HER2) activating mutations or amplification, or activating mutations in ERBB3 (HER3), ERBB4, or KRAS, with a clinical benefit rate of 10% (2/20, 2 stable disease), and a median duration of treatment of 1.8 months (PMID: 37314501; NCT03065387). 37314501
ERBB3 act mut Advanced Solid Tumor sensitive Neratinib Preclinical Actionable In a preclinical study, transformed cells expressing ERBB3 (HER3) activating mutations demonstrated sensitivity to Nerlynx (neratinib), resulting in inhibition of Erbb3 (Her3) phosphorylation, downstream signaling, and cell growth (Cancer Res October 1, 2014 74; 3419). detail...
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...