ERBB3 F94L
Gene Variant Detail

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Gene ERBB3
Variant F94L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ERBB3 (HER3) F94L lies within the extracellular domain of the Erbb3 (Her3) protein (PMID: 29963236). The functional effect of F94L is conflicting as it does not result in increased cell proliferation relative to wild-type Erbb3 (Her3) in ER-positive breast cancer cells (PMID: 29963236) and does not lead to increased downstream signaling or cell proliferation in Erbb2 (Her2)-positive breast cancer cells in culture (PMID: 38751013), but in another study results in elevated cell proliferation in Erbb2 (Her2)-overexpressing cells in culture (PMID: 29963236), and therefore, its effect on Erbb3 (Her3) protein function is unknown.
Associated Drug Resistance
Category Variants Paths

ERBB3 mutant ERBB3 F94L

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Transcript NM_001982.4
gDNA chr12:g.56085040T>C
cDNA c.280T>C
Protein p.F94L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001982 chr12:g.56085040T>C c.280T>C p.F94L RefSeq GRCh38/hg38
NM_001982.3 chr12:g.56085040T>C c.280T>C p.F94L RefSeq GRCh38/hg38
NM_001005915 chr12:g.56085040T>C c.280T>C p.F94L RefSeq GRCh38/hg38
NM_001982.4 chr12:g.56085040T>C c.280T>C p.F94L RefSeq GRCh38/hg38
NM_001005915.1 chr12:g.56085040T>C c.280T>C p.F94L RefSeq GRCh38/hg38
NM_001005915.1 chr12:g.56085040T>C c.280T>C p.F94L 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...