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 | S767R |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | RET S767R lies within the protein kinase domain of the Ret protein (UniProt.org). S767R results in decreased Ret, Erk, and Stat3 phosphorylation, reduced cell migration and colony formation compared to wild-type Ret protein in culture (PMID: 11438491, PMID: 22837065). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET inact mut RET S767R |
Transcript | NM_020975.6 |
gDNA | chr10:g.43118389T>G |
cDNA | c.2301T>G |
Protein | p.S767R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001355216.2 | chr10:g.43126596_43126597delTCinsCG | c.2299_2300delTCinsCG | p.S767R | RefSeq | GRCh38/hg38 |
NM_020975.5 | chr10:g.43118389T>G | c.2301T>G | p.S767R | RefSeq | GRCh38/hg38 |
NM_020975.6 | chr10:g.43118389T>G | c.2301T>G | p.S767R | RefSeq | GRCh38/hg38 |
NM_001406744.1 | chr10:g.43118389T>G | c.2301T>G | p.S767R | RefSeq | GRCh38/hg38 |
NM_020630.7 | chr10:g.43118389T>G | c.2301T>G | p.S767R | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43118389T>G | c.2301T>G | p.S767R | RefSeq | GRCh38/hg38 |
NM_020630.5 | chr10:g.43118389T>G | c.2301T>G | p.S767R | RefSeq | GRCh38/hg38 |
NM_001406760.1 | chr10:g.43118389T>G | c.2301T>G | p.S767R | RefSeq | GRCh38/hg38 |
NM_001406782.1 | chr10:g.43126731_43126732delTCinsCG | c.2299_2300delTCinsCG | p.S767R | RefSeq | GRCh38/hg38 |
NM_020630 | chr10:g.43118389T>G | c.2301T>G | p.S767R | RefSeq | GRCh38/hg38 |
NM_001355216.1 | chr10:g.43126596_43126597delTCinsCG | c.2299_2300delTCinsCG | p.S767R | RefSeq | GRCh38/hg38 |
NM_001406759.1 | chr10:g.43118389T>G | c.2301T>G | p.S767R | RefSeq | GRCh38/hg38 |
NM_020975 | chr10:g.43118389T>G | c.2301T>G | p.S767R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|