Gene Variant Detail

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Gene ERBB4
Variant P1116L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ERBB4 P1116L (corresponds to P1132L in the canonical isoform) lies within the cytoplasmic domain of the Erbb4 protein (UniProt.org). P1116L has been identified in the scientific literature (PMID: 30503610), but has not been biochemically characterized and therefore, its effect on Erbb4 protein function is unknown (PubMed, Feb 2020).
Associated Drug Resistance

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Transcript NM_001042599
gDNA chr2:g.211386939G>A
cDNA c.3347C>T
Protein p.P1116L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001042599 chr2:g.211386939G>A c.3347C>T p.P1116L 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.
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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 P1116L unknown