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| Gene | ERBB3 |
| Variant | A232V |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | ERBB3 (HER3) A232V lies within the extracellular domain of the Erbb3 (Her3) protein (UniProt.org). A232V confers a gain to Erbb3 (Her3) as demonstrated by increased phosphorylation of Akt and Erk and transformation of Erbb2 (Her2) expressing cells in culture (PMID: 23680147). |
| Associated Drug Resistance | |
| Category Variants Paths |
ERBB3 mutant ERBB3 act mut ERBB3 A232V |
| Transcript | NM_001982.4 |
| gDNA | chr12:g.56087876C>T |
| cDNA | c.695C>T |
| Protein | p.A232V |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001982.4 | chr12:g.56087876C>T | c.695C>T | p.A232V | RefSeq | GRCh38/hg38 |
| NM_001982.3 | chr12:g.56087876C>T | c.695C>T | p.A232V | RefSeq | GRCh38/hg38 |
| NM_001982 | chr12:g.56087876C>T | c.695C>T | p.A232V | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| ERBB3 A232V | Advanced Solid Tumor | sensitive | Lapatinib | Preclinical | Actionable | In a preclinical study, Tykerb (lapatinib) inhibited proliferation and colony formation in transformed cell lines expressing ERBB3 (HER3) A232V (PMID: 23680147). | 23680147 |
| ERBB3 A232V | Advanced Solid Tumor | sensitive | Trastuzumab | Preclinical - Cell culture | Actionable | In a preclinical study, Herceptin (trastuzumab) inhibited cell proliferation in transformed cell lines expressing ERBB3 (HER3) A232V in culture (PMID: 23680147). | 23680147 |
| ERBB3 A232V | Advanced Solid Tumor | sensitive | Pertuzumab | Preclinical - Cell culture | Actionable | In a preclinical study, Perjeta (pertuzumab) inhibited cell proliferation in transformed cell lines expressing ERBB3 (HER3) A232V in culture (PMID: 23680147). | 23680147 |
| ERBB3 A232V | Advanced Solid Tumor | sensitive | Pictilisib | Preclinical - Cell culture | Actionable | In a preclinical study, Pictilisib (GDC-0941) inhibited cell proliferation in transformed cell lines expressing ERBB3 (HER3) A232V in culture (PMID: 23680147). | 23680147 |
| ERBB3 A232V | breast cancer | sensitive | Patritumab deruxtecan | Preclinical - Cell culture | Actionable | In a preclinical study, Patritumab deruxtecan (U3-1402) treatment inhibited growth of a breast cancer cell line expressing ERBB3 (HER3) A232V in culture (PMID: 35503762). | 35503762 |