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Gene | RET |
Variant | Y1062F |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | RET Y1062F lies within the cytoplasmic domain of the Ret protein (UniProt.org). Y1062F results in reduced phosphorylation of Ret and Erk (PMID: 26395553), decreased binding to Frs2 and Shc in cell culture (PMID: 11360177), decreased binding to Pkca and reduced activation of Pkc (PMID: 12771945), Mapk7 (Bmk1) (PMID: 11237712), and Rap1 in cell culture (PMID: 17210721), decreased PI3K/Akt and Mapk signaling in the context of RET C634Y expression in cell culture (PMID: 11390647, PMID: 10919641), and reduced signaling of the Ras-Mapk pathway in a reporter assay (PMID: 32062451). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET inact mut RET Y1062F |
Transcript | NM_020975.6 |
gDNA | chr10:g.43126720A>T |
cDNA | c.3185A>T |
Protein | p.Y1062F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_020975.5 | chr10:g.43126720A>T | c.3185A>T | p.Y1062F | RefSeq | GRCh38/hg38 |
NM_020630.5 | chr10:g.43126720A>T | c.3185A>T | p.Y1062F | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43126720A>T | c.3185A>T | p.Y1062F | RefSeq | GRCh38/hg38 |
NM_001406744.1 | chr10:g.43126720A>T | c.3185A>T | p.Y1062F | RefSeq | GRCh38/hg38 |
NM_020975.6 | chr10:g.43126720A>T | c.3185A>T | p.Y1062F | RefSeq | GRCh38/hg38 |
NM_020630.7 | chr10:g.43126720A>T | c.3185A>T | p.Y1062F | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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