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
XM_017003579.3 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_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_017003577.3 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_017003580.3 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_017003581.2 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
NM_001042599.1 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_005235.2 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_017003579.2 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
XM_005246376.4 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_017003578.2 chr2:g.212538481G>A c.50C>T p.A17V RefSeq GRCh38/hg38

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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 )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries