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Gene | RET |
Variant | S765P |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | RET S765P lies within the protein kinase domain of the Ret protein (UniProt.org). S765P results in a loss of ligand-dependent phosphorylation of Ret and downstream signaling molecules including Erk, Akt, and PLCgamma, is not transforming in culture, and abolishes the activity of a concurrent activating IDH1 mutation (C634R) in culture (PMID: 11438491). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET inact mut RET S765P |
Transcript | NM_020975.6 |
gDNA | chr10:g.43118381T>C |
cDNA | c.2293T>C |
Protein | p.S765P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_020630.7 | chr10:g.43118381T>C | c.2293T>C | p.S765P | RefSeq | GRCh38/hg38 |
NM_001406760.1 | chr10:g.43118381T>C | c.2293T>C | p.S765P | RefSeq | GRCh38/hg38 |
NM_020630.5 | chr10:g.43118381T>C | c.2293T>C | p.S765P | RefSeq | GRCh38/hg38 |
NM_020630 | chr10:g.43118381T>C | c.2293T>C | p.S765P | RefSeq | GRCh38/hg38 |
NM_001406759.1 | chr10:g.43118381T>C | c.2293T>C | p.S765P | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43118381T>C | c.2293T>C | p.S765P | RefSeq | GRCh38/hg38 |
NM_001406768.1 | chr10:g.43119695T>C | c.2293T>C | p.S765P | RefSeq | GRCh38/hg38 |
NM_020975 | chr10:g.43118381T>C | c.2293T>C | p.S765P | RefSeq | GRCh38/hg38 |
NM_020975.6 | chr10:g.43118381T>C | c.2293T>C | p.S765P | RefSeq | GRCh38/hg38 |
NM_001406744.1 | chr10:g.43118381T>C | c.2293T>C | p.S765P | RefSeq | GRCh38/hg38 |
NM_020975.5 | chr10:g.43118381T>C | c.2293T>C | p.S765P | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
RET S765P | loss of function |