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| Gene | ERBB4 |
| Variant | G1109C |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | ERBB4 G1109C lies within the cytoplasmic domain of the Erbb4 protein (UniProt.org). G1109C confers a gain of function to the Erbb4 protein as demonstrated by increased phosphorylation of Erbb4 compared to wild-type and the ability to transform cells (PMID: 27207775). |
| Associated Drug Resistance | |
| Category Variants Paths |
ERBB4 mutant ERBB4 act mut ERBB4 G1109C |
| Transcript | NM_005235.3 |
| gDNA | chr2:g.211387009C>A |
| cDNA | c.3325G>T |
| Protein | p.G1109C |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_005235.3 | chr2:g.211387009C>A | c.3325G>T | p.G1109C | RefSeq | GRCh38/hg38 |
| NM_005235 | chr2:g.211387009C>A | c.3325G>T | p.G1109C | RefSeq | GRCh38/hg38 |
| NM_005235.2 | chr2:g.211387009C>A | c.3325G>T | p.G1109C | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| ERBB4 G1109C | head and neck squamous cell carcinoma | no benefit | Erlotinib | Preclinical - Cell culture | Actionable | In a preclinical study, head and neck squamous cell carcinoma cells harboring ERBB4 (HER4) G1109C were insensitive to treatment with Tarceva (erlotinib) in culture (PMID: 27207775). | 27207775 |
| ERBB4 G1109C | head and neck squamous cell carcinoma | no benefit | Cetuximab | Preclinical - Cell culture | Actionable | In a preclinical study, head and neck squamous cell carcinoma cells harboring ERBB4 (HER4) G1109C were insensitive to treatment with Erbitux (cetuximab) in culture (PMID: 27207775). | 27207775 |
| ERBB4 G1109C | head and neck squamous cell carcinoma | sensitive | Afatinib | Preclinical - Cell line xenograft | Actionable | In a preclinical study, Gilotrif (afatinib) treatment induced apoptosis in head and neck squamous cell carcinoma cells harboring ERBB4 (HER4) G1109C in culture and inhibited tumor growth in cell line xenograft models (PMID: 27207775). | 27207775 |