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| Gene | ERBB4 |
| Variant | E715K |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | ERBB4 E715K lies within the cytoplasmic domain of the Erbb4 protein (UniProt.org). E715K results in anchorage-independent growth and increased Erbb4 phosphorylation in culture and induced tumor growth in mouse models (PMID: 36860695). |
| Associated Drug Resistance | |
| Category Variants Paths |
ERBB4 mutant ERBB4 act mut ERBB4 E715K |
| Transcript | NM_005235.3 |
| gDNA | chr2:g.211623981C>T |
| cDNA | c.2143G>A |
| Protein | p.E715K |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001042599.1 | chr2:g.211623981C>T | c.2143G>A | p.E715K | RefSeq | GRCh38/hg38 |
| NM_001042599.1 | chr2:g.211623981C>T | c.2143G>A | p.E715K | RefSeq | GRCh38/hg38 |
| NM_005235.3 | chr2:g.211623981C>T | c.2143G>A | p.E715K | RefSeq | GRCh38/hg38 |
| NM_005235.2 | chr2:g.211623981C>T | c.2143G>A | p.E715K | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| ERBB4 E715K | Advanced Solid Tumor | sensitive | Afatinib | Preclinical - Cell culture | Actionable | In a preclinical study, Gilotrif (afatinib) inhibited growth of a transformed cell line expressing ERBB4 E715K in culture (PMID: 36860695). | 36860695 |
| ERBB4 E715K | Advanced Solid Tumor | sensitive | Neratinib | Preclinical - Cell culture | Actionable | In a preclinical study, Nerlynx (neratinib) inhibited growth of a transformed cell line expressing ERBB4 E715K in culture (PMID: 36860695). | 36860695 |
| ERBB4 E715K | Advanced Solid Tumor | sensitive | Dacomitinib | Preclinical - Cell culture | Actionable | In a preclinical study, Vizimpro (dacomitinib) inhibited growth of a transformed cell line expressing ERBB4 E715K in culture (PMID: 36860695). | 36860695 |
| ERBB4 E715K | Advanced Solid Tumor | resistant | Erlotinib | Preclinical - Cell culture | Actionable | In a preclinical study, transformed cells expressing ERBB4 E715K were resistant to Tarceva (erlotinib) treatment in culture (PMID: 36860695). | 36860695 |