ERBB4 D595V
Gene Variant Detail

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Gene ERBB4
Variant D595V
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions ERBB4 D595V lies within the extracellular domain of the Erbb4 protein (UniProt.org). D595V 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 D595V

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Transcript NM_005235.3
gDNA chr2:g.211665410T>A
cDNA c.1784A>T
Protein p.D595V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001042599 chr2:g.211665410T>A c.1784A>T p.D595V RefSeq GRCh38/hg38
NM_005235.2 chr2:g.211665410T>A c.1784A>T p.D595V RefSeq GRCh38/hg38
XM_006712364.3 chr2:g.211665410T>A c.1784A>T p.D595V RefSeq GRCh38/hg38
XM_005246376 chr2:g.211665410T>A c.1784A>T p.D595V RefSeq GRCh38/hg38
NM_005235.3 chr2:g.211665410T>A c.1784A>T p.D595V RefSeq GRCh38/hg38
NM_001042599.1 chr2:g.211665410T>A c.1784A>T p.D595V RefSeq GRCh38/hg38
XM_005246376.4 chr2:g.211665410T>A c.1784A>T p.D595V RefSeq GRCh38/hg38
XM_006712364 chr2:g.211665410T>A c.1784A>T p.D595V RefSeq GRCh38/hg38
XM_006712364.4 chr2:g.211665410T>A c.1784A>T p.D595V RefSeq GRCh38/hg38
XM_005246377 chr2:g.211665410T>A c.1784A>T p.D595V RefSeq GRCh38/hg38
XM_005246376.3 chr2:g.211665410T>A c.1784A>T p.D595V RefSeq GRCh38/hg38
XM_005246377.3 chr2:g.211665410T>A c.1784A>T p.D595V RefSeq GRCh38/hg38
NM_001042599.1 chr2:g.211665410T>A c.1784A>T p.D595V RefSeq GRCh38/hg38
NM_005235 chr2:g.211665410T>A c.1784A>T p.D595V RefSeq GRCh38/hg38
XM_005246377.4 chr2:g.211665410T>A c.1784A>T p.D595V 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 )
  • 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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  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References