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

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Transcript NM_005235
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 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
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_005246377 chr2:g.211673250G>A c.1630C>T p.R544W RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "mtor c1483f"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

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
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
Molecular Profile Protein Effect Treatment Approaches
ERBB4 R544W gain of function Lapatinib