ERBB3 H584L
Gene Variant Detail

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Gene ERBB3
Variant H584L
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions ERBB3 (HER3) H584L lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). H584L results in increased focus formation when expressed alone and IL3-independent growth upon co-expression with ERBB2 (HER2) V956R, an impaired activator of homodimerization, in one of three cell lines 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 H584L

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Transcript NM_001982.4
gDNA chr12:g.56094448A>T
cDNA c.1751A>T
Protein p.H584L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001982.4 chr12:g.56094448A>T c.1751A>T p.H584L RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References