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Gene | RET |
Variant | C618R |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | RET C618R lies within the cysteine-rich region of the Ret protein (PMID: 9879991). C618R results in constitutive Ret phosphorylation and increased Ret kinase activity, but decreased Ret cell surface expression, and is transforming in cell culture (PMID: 9230192, PMID: 9879991). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET act mut RET C618R RET mutant RET C618X RET C618R |
Transcript | NM_020975.6 |
gDNA | chr10:g.43113648T>C |
cDNA | c.1852T>C |
Protein | p.C618R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_020975.6 | chr10:g.43113648T>C | c.1852T>C | p.C618R | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43113648T>C | c.1852T>C | p.C618R | RefSeq | GRCh38/hg38 |
NM_001406760.1 | chr10:g.43113648T>C | c.1852T>C | p.C618R | RefSeq | GRCh38/hg38 |
NM_020630.5 | chr10:g.43113648T>C | c.1852T>C | p.C618R | RefSeq | GRCh38/hg38 |
NM_020975 | chr10:g.43113648T>C | c.1852T>C | p.C618R | RefSeq | GRCh38/hg38 |
NM_020975.5 | chr10:g.43113648T>C | c.1852T>C | p.C618R | RefSeq | GRCh38/hg38 |
NM_001406763.1 | chr10:g.43113648T>C | c.1852T>C | p.C618R | RefSeq | GRCh38/hg38 |
NM_020630 | chr10:g.43113648T>C | c.1852T>C | p.C618R | RefSeq | GRCh38/hg38 |
NM_001406744.1 | chr10:g.43113648T>C | c.1852T>C | p.C618R | RefSeq | GRCh38/hg38 |
NM_001406765.1 | chr10:g.43113648T>C | c.1852T>C | p.C618R | RefSeq | GRCh38/hg38 |
NM_020630.7 | chr10:g.43113648T>C | c.1852T>C | p.C618R | RefSeq | GRCh38/hg38 |
NM_001406759.1 | chr10:g.43113648T>C | c.1852T>C | p.C618R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
RET C618R | medullary thyroid carcinoma | predicted - sensitive | Sorafenib | Case Reports/Case Series | Actionable | In a Phase II trial, Nexavar (sorafenib) treatment resulted in stable disease in one patient with medullary thyroid carcinoma harboring RET C618R (PMID: 20368568; NCT00390325). | 20368568 |