ERBB3 E332K
Gene Variant Detail

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Gene ERBB3
Variant E332K
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions ERBB3 (HER3) E332K lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). E332K results in increased focus formation compared to wild-type Erbb3 (Her3) when individually expressed and increased IL3-independent growth upon co-expression with ERBB2 (HER2) V956R, an impaired activator of homodimerization, in culture (PMID: 38806620), and therefore, is predicted to lead to a gain of Erbb3 (Her3) protein function.
Associated Drug Resistance
Category Variants Paths

ERBB3 mutant ERBB3 act mut ERBB3 E332K

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Transcript NM_001982.4
gDNA chr12:g.56088753G>A
cDNA c.994G>A
Protein p.E332K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001982.3 chr12:g.56088753G>A c.994G>A p.E332K RefSeq GRCh38/hg38
NM_001982.4 chr12:g.56088753G>A c.994G>A p.E332K RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • 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 E332K extrahepatic bile duct carcinoma predicted - sensitive Neratinib Case Reports/Case Series Actionable In a clinical case study, erlynx (neratinib) treatment resulted in improvement in performance status lasting 4 months in a patient with extrahepatic cholangiocarcinoma harboring ERBB3 E332K (PMID: 33279901). 33279901