ERBB4 R544W
Gene Variant Detail

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Gene ERBB4
Variant R544W
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions ERBB4 R544W lies within the extracellular domain of the Erbb4 protein (UniProt.org). R544W results in constitutive phosphorylation of Erbb4, increased cell proliferation and is transforming in cell culture (PMID: 19718025).
Associated Drug Resistance
Category Variants Paths

ERBB4 mutant ERBB4 act mut ERBB4 R544W

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Transcript NM_005235.3
gDNA chr2:g.211673250G>A
cDNA c.1630C>T
Protein p.R544W
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005246376.3 chr2:g.211673250G>A c.1630C>T p.R544W RefSeq GRCh38/hg38
XM_006712364 chr2:g.211673250G>A c.1630C>T p.R544W RefSeq GRCh38/hg38
NM_005235 chr2:g.211673250G>A c.1630C>T p.R544W RefSeq GRCh38/hg38
XM_006712364.3 chr2:g.211673250G>A c.1630C>T p.R544W RefSeq GRCh38/hg38
NM_001042599.1 chr2:g.211673250G>A c.1630C>T p.R544W RefSeq GRCh38/hg38
XM_005246376.4 chr2:g.211673250G>A c.1630C>T p.R544W RefSeq GRCh38/hg38
XM_005246377 chr2:g.211673250G>A c.1630C>T p.R544W RefSeq GRCh38/hg38
XM_005246376 chr2:g.211673250G>A c.1630C>T p.R544W RefSeq GRCh38/hg38
NM_005235.2 chr2:g.211673250G>A c.1630C>T p.R544W RefSeq GRCh38/hg38
XM_006712364.4 chr2:g.211673250G>A c.1630C>T p.R544W RefSeq GRCh38/hg38
NM_001042599 chr2:g.211673250G>A c.1630C>T p.R544W RefSeq GRCh38/hg38
NM_001042599.1 chr2:g.211673250G>A c.1630C>T p.R544W RefSeq GRCh38/hg38
XM_005246377.4 chr2:g.211673250G>A c.1630C>T p.R544W RefSeq GRCh38/hg38
XM_005246377.3 chr2:g.211673250G>A c.1630C>T p.R544W RefSeq GRCh38/hg38
NM_005235.3 chr2:g.211673250G>A c.1630C>T p.R544W 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
ERBB4 R544W melanoma sensitive Lapatinib Preclinical Actionable In a preclinical study, Tykerb (lapatinib) induced apoptosis in melanoma cells harboring ERBB4 R544W in culture (PMID: 19718025). 19718025