ERBB4 E317K
Gene Variant Detail

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Gene ERBB4
Variant E317K
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions ERBB4 E317K lies within the extracellular domain of the Erbb4 protein (UniProt.org). E317K results in activation of Akt but not Erk in a melanoma cell line in culture (PMID: 19718025) and activation of Erk but not Akt when expressed in the JM-a CYT2 isoform, and results in increased proliferation (PMID: 30044378), constitutive phosphorylation of Erbb4, and transformation in cell culture (PMID: 19718025), and tumor formation in a mouse model (PMID: 30044378).
Associated Drug Resistance
Category Variants Paths

ERBB4 mutant ERBB4 act mut ERBB4 E317K

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Transcript NM_005235.3
gDNA chr2:g.211713583C>T
cDNA c.949G>A
Protein p.E317K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005246377 chr2:g.211713583C>T c.949G>A p.E317K RefSeq GRCh38/hg38
XM_006712364 chr2:g.211713583C>T c.949G>A p.E317K RefSeq GRCh38/hg38
XM_005246376 chr2:g.211713583C>T c.949G>A p.E317K RefSeq GRCh38/hg38
XM_006712364.4 chr2:g.211713583C>T c.949G>A p.E317K RefSeq GRCh38/hg38
NM_001042599.1 chr2:g.211713583C>T c.949G>A p.E317K RefSeq GRCh38/hg38
XM_005246376.3 chr2:g.211713583C>T c.949G>A p.E317K RefSeq GRCh38/hg38
XM_006712364.3 chr2:g.211713583C>T c.949G>A p.E317K RefSeq GRCh38/hg38
XM_005246376.4 chr2:g.211713583C>T c.949G>A p.E317K RefSeq GRCh38/hg38
NM_005235 chr2:g.211713583C>T c.949G>A p.E317K RefSeq GRCh38/hg38
NM_005235.3 chr2:g.211713583C>T c.949G>A p.E317K RefSeq GRCh38/hg38
NM_005235.2 chr2:g.211713583C>T c.949G>A p.E317K RefSeq GRCh38/hg38
NM_001042599.1 chr2:g.211713583C>T c.949G>A p.E317K RefSeq GRCh38/hg38
XM_005246377.4 chr2:g.211713583C>T c.949G>A p.E317K RefSeq GRCh38/hg38
NM_001042599 chr2:g.211713583C>T c.949G>A p.E317K RefSeq GRCh38/hg38
XM_005246377.3 chr2:g.211713583C>T c.949G>A p.E317K RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • 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

  • 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
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ERBB4 E317K melanoma sensitive Lapatinib Preclinical - Cell culture Actionable In a preclinical study, Tykerb (lapatinib) inhibited growth and induced apoptosis in melanoma cells harboring ERBB4 E317K in culture (PMID: 19718025). 19718025