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_001042599.1 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 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
NM_005235.3 chr2:g.211665410T>A c.1784A>T p.D595V RefSeq GRCh38/hg38
NM_001042599 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
NM_005235.2 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
XM_005246377 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_005246376.3 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_006712364.3 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

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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
ERBB4 act mut Advanced Solid Tumor no benefit Neratinib + Trametinib Phase I Actionable In a Phase I trial, treatment with the combination of Nerlynx (neratinib) and Mekinist (trametinib) demonstrated toxicity and limited efficacy in patients with advanced solid tumors harboring EGFR or ERBB2 (HER2) activating mutations or amplification, or activating mutations in ERBB3 (HER3), ERBB4, or KRAS, with a clinical benefit rate of 10% (2/20, 2 stable disease), and a median duration of treatment of 1.8 months (PMID: 37314501; NCT03065387). 37314501
ERBB4 mutant lung squamous cell carcinoma predicted - sensitive Afatinib Phase III Actionable In a Phase III trial (LUX-Lung 8), secondary analysis demonstrated favorable outcomes with Gilotrif (afatinib) treatment compared to Tarceva (erlotinib) in lung squamous cell carcinoma patients with ERBB (HER) family mutations, and ERBB4 (HER4) mutations predicted an OS (HR=0.22) and PFS (HR=0.21) benefit for Gilotrif (afatinib) over Tarceva (erlotinib) treatment (PMID: 29902295; NCT01523587). 29902295