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| Gene | ERBB3 |
| Variant | Q809R |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | ERBB3 (HER3) Q809R lies within the protein kinase domain of the Erbb3 (Her3) protein (UniProt.org). Q809R confers a gain of Erbb3 (Her3) protein function, resulting in phosphorylation of Akt and Erk, as well as oncogenic transformation of Erbb2 (Her2) expressing cells (PMID: 23680147). |
| Associated Drug Resistance | |
| Category Variants Paths |
ERBB3 mutant ERBB3 act mut ERBB3 Q809R |
| Transcript | NM_001982.4 |
| gDNA | chr12:g.56097196A>G |
| cDNA | c.2426A>G |
| Protein | p.Q809R |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001982.3 | chr12:g.56097196A>G | c.2426A>G | p.Q809R | RefSeq | GRCh38/hg38 |
| NM_001982 | chr12:g.56097196A>G | c.2426A>G | p.Q809R | RefSeq | GRCh38/hg38 |
| NM_001982.4 | chr12:g.56097196A>G | c.2426A>G | p.Q809R | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| ERBB3 Q809R | 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) Q809R (PMID: 23680147). | 23680147 |
| ERBB3 Q809R | Advanced Solid Tumor | sensitive | Duligotuzumab | Preclinical | Actionable | In a preclinical study, MEHD7945A inhibited proliferation and colony formation in transformed cell lines expressing ERBB3 (HER3) Q809R (PMID: 23680147). | 23680147 |
| ERBB3 Q809R | Advanced Solid Tumor | sensitive | Trastuzumab | Preclinical | Actionable | In a preclinical study, Herceptin (trastuzumab) inhibited proliferation and colony formation in transformed cell lines expressing ERBB3 (HER3) Q809R (PMID: 23680147). | 23680147 |
| ERBB3 Q809R | Advanced Solid Tumor | decreased response | Pertuzumab | Preclinical | Actionable | In a preclinical study, transformed cell lines expressing ERBB3 (HER3) Q809R in culture demonstrated a decreased response to Perjeta (pertuzumab), showing inhibition of proliferation and colony formation, but to a lesser degree than other therapies (PMID: 23680147). | 23680147 |
| ERBB3 Q809R | Advanced Solid Tumor | resistant | Cetuximab | Preclinical | Actionable | In a preclinical study, transformed cell lines expressing ERBB3 (HER3) Q809R demonstrated resistance to treatment with Erbitux (cetuximab) (PMID: 23680147). | 23680147 |
| ERBB3 Q809R | Advanced Solid Tumor | decreased response | Pictilisib | Preclinical | Actionable | In a preclinical study, transformed cell lines expressing ERBB3 (HER3) Q809R in culture demonstrated a decreased response to Pictlisib (GDC-0941), showing inhibition of proliferation and colony formation, but to a lesser degree than other therapies (PMID: 23680147). | 23680147 |
| ERBB3 Q809R | Advanced Solid Tumor | sensitive | Mirdametinib + Pictilisib | Preclinical | Actionable | In a preclinical study, the combination of GDC-0941 and Gomekli (mirdametinib) inhibited proliferation and colony formation in transformed cell lines expressing ERBB3 (HER3) Q809R (PMID: 23680147). | 23680147 |