ERBB4 A17V
Gene Variant Detail

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Gene ERBB4
Variant A17V
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions ERBB4 A17V lies within the signal peptide region of the Erbb4 protein (UniProt.org). A17V results in basal level and ligand-dependent phosphorylation of Erbb4 and downstream signaling comparable to wild-type protein, and is not transforming in culture (PMID: 33323455), and therefore, is predicted to have no effect on Erbb4 protein function.
Associated Drug Resistance
Category Variants Paths

ERBB4 mutant ERBB4 A17V

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Transcript NM_005235.3
gDNA chr2:g.212538481G>A
cDNA c.50C>T
Protein p.A17V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005235.2 chr2:g.212538481G>A c.50C>T p.A17V RefSeq GRCh38/hg38
XM_006712364.3 chr2:g.212538481G>A c.50C>T p.A17V RefSeq GRCh38/hg38
NM_001042599.1 chr2:g.212538481G>A c.50C>T p.A17V RefSeq GRCh38/hg38
XM_017003581.3 chr2:g.212538481G>A c.50C>T p.A17V RefSeq GRCh38/hg38
XM_017003577.2 chr2:g.212538481G>A c.50C>T p.A17V RefSeq GRCh38/hg38
XM_006712364.4 chr2:g.212538481G>A c.50C>T p.A17V RefSeq GRCh38/hg38
XM_005246376.3 chr2:g.212538481G>A c.50C>T p.A17V RefSeq GRCh38/hg38
XM_017003580.2 chr2:g.212538481G>A c.50C>T p.A17V RefSeq GRCh38/hg38
XM_017003579.2 chr2:g.212538481G>A c.50C>T p.A17V RefSeq GRCh38/hg38
XM_005246377.3 chr2:g.212538481G>A c.50C>T p.A17V RefSeq GRCh38/hg38
XM_017003578.3 chr2:g.212538481G>A c.50C>T p.A17V RefSeq GRCh38/hg38
XM_017003579.3 chr2:g.212538481G>A c.50C>T p.A17V RefSeq GRCh38/hg38
XM_017003577.3 chr2:g.212538481G>A c.50C>T p.A17V RefSeq GRCh38/hg38
XM_017003581.2 chr2:g.212538481G>A c.50C>T p.A17V RefSeq GRCh38/hg38
NM_001042599.1 chr2:g.212538481G>A c.50C>T p.A17V RefSeq GRCh38/hg38
NM_005235.3 chr2:g.212538481G>A c.50C>T p.A17V RefSeq GRCh38/hg38
XM_017003578.2 chr2:g.212538481G>A c.50C>T p.A17V RefSeq GRCh38/hg38
XM_005246376.4 chr2:g.212538481G>A c.50C>T p.A17V RefSeq GRCh38/hg38
XM_017003580.3 chr2:g.212538481G>A c.50C>T p.A17V RefSeq GRCh38/hg38
XM_005246377.4 chr2:g.212538481G>A c.50C>T p.A17V 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
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