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| Gene | RET |
| Variant | A641R |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | RET A641R lies within the transmembrane domain of the Ret protein (UniProt.org). A641R results in decreased self-association in an in vitro assay (PMID: 16732321), but has not been fully biochemically characterized and therefore, its effect on Ret protein function is unknown. |
| Associated Drug Resistance | |
| Category Variants Paths |
RET mutant RET A641R |
| Transcript | NM_020975.6 |
| gDNA | chr10:g.43114521_43114522delGCinsCG |
| cDNA | c.1921_1922delGCinsCG |
| Protein | p.A641R |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001406744.1 | chr10:g.43114521_43114522delGCinsCG | c.1921_1922delGCinsCG | p.A641R | RefSeq | GRCh38/hg38 |
| NM_001406743.1 | chr10:g.43114521_43114522delGCinsCG | c.1921_1922delGCinsCG | p.A641R | RefSeq | GRCh38/hg38 |
| NM_001406760.1 | chr10:g.43114521_43114522delGCinsCG | c.1921_1922delGCinsCG | p.A641R | RefSeq | GRCh38/hg38 |
| NM_001406759.1 | chr10:g.43114521_43114522delGCinsCG | c.1921_1922delGCinsCG | p.A641R | RefSeq | GRCh38/hg38 |
| NM_020975.6 | chr10:g.43114521_43114522delGCinsCG | c.1921_1922delGCinsCG | p.A641R | RefSeq | GRCh38/hg38 |
| NM_020630.7 | chr10:g.43114521_43114522delGCinsCG | c.1921_1922delGCinsCG | p.A641R | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| RET A641R | medullary thyroid carcinoma | predicted - sensitive | Selpercatinib | Case Reports/Case Series | Actionable | In a clinical case study, Retevmo (selpercatinib) treatment resulted in a partial response in a patient with metastatic medullary thyroid carcinoma harboring RET A641R (PMID: 40638225). | 40638225 |