ERBB4 M993I
Gene Variant Detail

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Gene ERBB4
Variant M993I
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions ERBB4 M993I lies within the cytoplasmic domain of the Erbb4 protein (UniProt.org). M993I results in anchorage-independent growth in the presence of ligand but similar phosphorylation to wild-type Erbb4 in culture (PMID: 36860695), and therefore, is predicted to lead to a gain of Erbb4 protein function.
Associated Drug Resistance
Category Variants Paths

ERBB4 mutant ERBB4 act mut ERBB4 M993I

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Transcript NM_005235.3
gDNA chr2:g.211420597C>G
cDNA c.2979G>C
Protein p.M993I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001042599.1 chr2:g.211420597C>G c.2979G>C p.M993I RefSeq GRCh38/hg38
XM_017003580.2 chr2:g.211422040C>G c.2979G>C p.M993I RefSeq GRCh38/hg38
XM_017003580.3 chr2:g.211422040C>G c.2979G>C p.M993I RefSeq GRCh38/hg38
NM_005235.3 chr2:g.211420597C>G c.2979G>C p.M993I RefSeq GRCh38/hg38
NM_005235.2 chr2:g.211420597C>G c.2979G>C p.M993I RefSeq GRCh38/hg38
NM_001042599.1 chr2:g.211420597C>G c.2979G>C p.M993I RefSeq GRCh38/hg38

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  • 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")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ERBB4 act mut Advanced Solid Tumor no benefit Neratinib + Trametinib Phase I Actionable In a Phase I trial, treatment with the combination of Nerlynx (neratinib) and Mekinist (trametinib) demonstrated toxicity and limited efficacy in patients with advanced solid tumors harboring EGFR or ERBB2 (HER2) activating mutations or amplification, or activating mutations in ERBB3 (HER3), ERBB4, or KRAS, with a clinical benefit rate of 10% (2/20, 2 stable disease), and a median duration of treatment of 1.8 months (PMID: 37314501; NCT03065387). 37314501
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