ERBB3 K279N
Gene Variant Detail

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Gene ERBB3
Variant K279N
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions ERBB3 (HER3) K279N lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). K279N 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 K279N

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Transcript NM_001982.4
gDNA chr12:g.56088125G>C
cDNA c.837G>C
Protein p.K279N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001982.4 chr12:g.56088125G>C c.837G>C p.K279N RefSeq GRCh38/hg38

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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