ERBB4 Y285C
Gene Variant Detail

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Gene ERBB4
Variant Y285C
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions ERBB4 Y285C lies within the extracellular domain of the Erbb4 protein (UniProt.org). Y285C confers a gain of function to the Erbb4 protein as demonstrated by increased receptor dimerization, transactivation, and Erbb4 phosphorylation (PMID: 26050618).
Associated Drug Resistance
Category Variants Paths

ERBB4 mutant ERBB4 act mut ERBB4 Y285C

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Transcript NM_005235.3
gDNA chr2:g.211722422T>C
cDNA c.854A>G
Protein p.Y285C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005246377.4 chr2:g.211722422T>C c.854A>G p.Y285C RefSeq GRCh38/hg38
NM_001042599 chr2:g.211722422T>C c.854A>G p.Y285C RefSeq GRCh38/hg38
XM_006712364 chr2:g.211722422T>C c.854A>G p.Y285C RefSeq GRCh38/hg38
XM_005246376.3 chr2:g.211722422T>C c.854A>G p.Y285C RefSeq GRCh38/hg38
NM_001042599.1 chr2:g.211722422T>C c.854A>G p.Y285C RefSeq GRCh38/hg38
XM_005246377 chr2:g.211722422T>C c.854A>G p.Y285C RefSeq GRCh38/hg38
XM_005246376.4 chr2:g.211722422T>C c.854A>G p.Y285C RefSeq GRCh38/hg38
NM_001042599.1 chr2:g.211722422T>C c.854A>G p.Y285C RefSeq GRCh38/hg38
XM_006712364.3 chr2:g.211722422T>C c.854A>G p.Y285C RefSeq GRCh38/hg38
XM_005246377.3 chr2:g.211722422T>C c.854A>G p.Y285C RefSeq GRCh38/hg38
NM_005235.2 chr2:g.211722422T>C c.854A>G p.Y285C RefSeq GRCh38/hg38
XM_006712364.4 chr2:g.211722422T>C c.854A>G p.Y285C RefSeq GRCh38/hg38
NM_005235.3 chr2:g.211722422T>C c.854A>G p.Y285C RefSeq GRCh38/hg38
NM_005235 chr2:g.211722422T>C c.854A>G p.Y285C RefSeq GRCh38/hg38
XM_005246376 chr2:g.211722422T>C c.854A>G p.Y285C RefSeq GRCh38/hg38

Filtering

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  • 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