ERBB4 R393W
Gene Variant Detail

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Gene ERBB4
Variant R393W
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ERBB4 R393W lies within the extracellular domain of the Erbb4 protein (UniProt.org). R393W results in increased transformation compared to wild-type Erbb4 in one of two cell lines in culture (PMID: 41437739), but has not been fully biochemically characterized and therefore, its effect on Erbb4 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

ERBB4 mutant ERBB4 R393W

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Transcript NM_005235.3
gDNA chr2:g.211705339G>A
cDNA c.1177C>T
Protein p.R393W
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006712364 chr2:g.211705339G>A c.1177C>T p.R393W RefSeq GRCh38/hg38
NM_001042599.1 chr2:g.211705339G>A c.1177C>T p.R393W RefSeq GRCh38/hg38
XM_006712364.3 chr2:g.211705339G>A c.1177C>T p.R393W RefSeq GRCh38/hg38
XM_006712364.4 chr2:g.211705339G>A c.1177C>T p.R393W RefSeq GRCh38/hg38
XM_005246377.4 chr2:g.211705339G>A c.1177C>T p.R393W RefSeq GRCh38/hg38
NM_001042599.1 chr2:g.211705339G>A c.1177C>T p.R393W RefSeq GRCh38/hg38
XM_005246377.3 chr2:g.211705339G>A c.1177C>T p.R393W RefSeq GRCh38/hg38
XM_005246376 chr2:g.211705339G>A c.1177C>T p.R393W RefSeq GRCh38/hg38
NM_005235 chr2:g.211705339G>A c.1177C>T p.R393W RefSeq GRCh38/hg38
NM_005235.3 chr2:g.211705339G>A c.1177C>T p.R393W RefSeq GRCh38/hg38
XM_005246376.3 chr2:g.211705339G>A c.1177C>T p.R393W RefSeq GRCh38/hg38
NM_001042599 chr2:g.211705339G>A c.1177C>T p.R393W RefSeq GRCh38/hg38
XM_005246377 chr2:g.211705339G>A c.1177C>T p.R393W RefSeq GRCh38/hg38
NM_005235.2 chr2:g.211705339G>A c.1177C>T p.R393W RefSeq GRCh38/hg38
XM_005246376.4 chr2:g.211705339G>A c.1177C>T p.R393W 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
ERBB4 R393W melanoma sensitive Lapatinib Preclinical - Cell culture Actionable In a preclinical study, Tykerb (lapatinib) inhibited survival of melanoma cells harboring ERBB4 R393W in culture (PMID: 19718025). 19718025