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Gene | RET |
Variant | C620R |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | RET C620R lies within the extracellular domain of the Ret protein (PMID: 9230192). C620R results in decreased cell surface Ret expression, but also results in increased Ret and Shc phosphorylation, activation of transcription in a reporter assay, and is transforming in cell culture (PMID: 9879991, PMID: 9230192). |
Associated Drug Resistance |
Transcript | NM_020975.5 |
gDNA | chr10:g.43113654T>C |
cDNA | c.1858T>C |
Protein | p.C620R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_020630.5 | chr10:g.43113654T>C | c.1858T>C | p.C620R | RefSeq | GRCh38/hg38 |
NM_020975.5 | chr10:g.43113654T>C | c.1858T>C | p.C620R | RefSeq | GRCh38/hg38 |
NM_020630 | chr10:g.43113654T>C | c.1858T>C | p.C620R | RefSeq | GRCh38/hg38 |
NM_020975 | chr10:g.43113654T>C | c.1858T>C | p.C620R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
RET C620R | thyroid gland medullary carcinoma | sensitive | Everolimus | Phase II | Actionable | In a Phase II clinical trial, Afinitor (everolimus) treatment resulted in stable disease of 116 weeks in a MEN2A patient with medullary thyroid cancer carrying a RET C620R mutation (PMID: 26294908). | 26294908 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
RET C620R | gain of function | RET Inhibitor |