ERBB4 K751M
Gene Variant Detail

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Gene ERBB4
Variant K751M
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions ERBB4 K751M lies within the protein kinase domain of the Erbb4 protein (UniProt.org). K751M results in a loss of Erbb4 protein function as demonstrated by a loss of kinase activity in cell culture (PMID: 19718025, PMID: 21110957).
Associated Drug Resistance
Category Variants Paths

ERBB4 mutant ERBB4 inact mut ERBB4 K751M

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Transcript NM_005235.3
gDNA chr2:g.211619226T>A
cDNA c.2252A>T
Protein p.K751M
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005235 chr2:g.211619226T>A c.2252A>T p.K751M RefSeq GRCh38/hg38
NM_001042599.1 chr2:g.211619226T>A c.2252A>T p.K751M RefSeq GRCh38/hg38
NM_001042599.1 chr2:g.211619226T>A c.2252A>T p.K751M RefSeq GRCh38/hg38
NM_005235.2 chr2:g.211619226T>A c.2252A>T p.K751M RefSeq GRCh38/hg38
NM_005235.3 chr2:g.211619226T>A c.2252A>T p.K751M RefSeq GRCh38/hg38
NM_001042599 chr2:g.211619226T>A c.2252A>T p.K751M 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.
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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