Gene Variant Detail

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Gene ERBB4
Variant E452K
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions ERBB4 E452K lies within the extracellular domain of the Erbb4 protein (UniProt.org). E452K 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.211702102C>T
cDNA c.1354G>A
Protein p.E452K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005246377 chr2:g.211702102C>T c.1354G>A p.E452K RefSeq GRCh38/hg38
NM_001042599 chr2:g.211702102C>T c.1354G>A p.E452K RefSeq GRCh38/hg38
XM_006712364 chr2:g.211702102C>T c.1354G>A p.E452K RefSeq GRCh38/hg38
XM_005246376 chr2:g.211702102C>T c.1354G>A p.E452K RefSeq GRCh38/hg38
NM_005235 chr2:g.211702102C>T c.1354G>A p.E452K 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 Protein Effect Treatment Approaches
ERBB4 E452K gain of function Lapatinib
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ERBB4 E452K melanoma sensitive Lapatinib Preclinical - Cell culture Actionable In a preclinical study, Tykerb (lapatinib) inhibited growth and induced apoptosis in melanoma cells harboring ERBB4 E452K in culture (PMID: 19718025). 19718025