Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | RET |
Variant | C620Y |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | RET C620Y lies within the extracellular domain of the Ret protein (UniProt.org). C620Y results in constitutive dimerization of Ret, increased Ret kinase activity, and is transforming in cell culture (PMID: 9012462). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET act mut RET C620Y RET mutant RET C620X RET C620Y |
Transcript | NM_020975.6 |
gDNA | chr10:g.43113655G>A |
cDNA | c.1859G>A |
Protein | p.C620Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_020975.5 | chr10:g.43113655G>A | c.1859G>A | p.C620Y | RefSeq | GRCh38/hg38 |
NM_020630.5 | chr10:g.43113655G>A | c.1859G>A | p.C620Y | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43113655G>A | c.1859G>A | p.C620Y | RefSeq | GRCh38/hg38 |
NM_001406744.1 | chr10:g.43113655G>A | c.1859G>A | p.C620Y | RefSeq | GRCh38/hg38 |
NM_020975.6 | chr10:g.43113655G>A | c.1859G>A | p.C620Y | RefSeq | GRCh38/hg38 |
NM_001406759.1 | chr10:g.43113655G>A | c.1859G>A | p.C620Y | RefSeq | GRCh38/hg38 |
NM_001406765.1 | chr10:g.43113655G>A | c.1859G>A | p.C620Y | RefSeq | GRCh38/hg38 |
NM_001406760.1 | chr10:g.43113655G>A | c.1859G>A | p.C620Y | RefSeq | GRCh38/hg38 |
NM_020630 | chr10:g.43113655G>A | c.1859G>A | p.C620Y | RefSeq | GRCh38/hg38 |
NM_020975 | chr10:g.43113655G>A | c.1859G>A | p.C620Y | RefSeq | GRCh38/hg38 |
NM_001406763.1 | chr10:g.43113655G>A | c.1859G>A | p.C620Y | RefSeq | GRCh38/hg38 |
NM_020630.7 | chr10:g.43113655G>A | c.1859G>A | p.C620Y | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
RET C620Y | lung small cell carcinoma | predicted - sensitive | Selpercatinib | Case Reports/Case Series | Actionable | In a clinical case study, Retevmo (selpercatinib) treatment resulted in a partial response with rapid clinical improvement and shrinkage of brain, skin, and muscle metastases in a patient with small cell lung cancer harboring RET C620Y who remained on treatment after 6 months (PMID: 37922409). | 37922409 |