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Gene | RET |
Variant | Y1062C |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | RET Y1062C lies within the cytoplasmic domain of the Ret protein (UniProt.org). Y1062C results in reduced phosphorylation of Ret and Erk in cell culture (PMID: 26395553), and therefore, is predicted to lead to a loss of function of Ret protein function. |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET inact mut RET Y1062C |
Transcript | NM_020975.6 |
gDNA | chr10:g.43126720A>G |
cDNA | c.3185A>G |
Protein | p.Y1062C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_020975.5 | chr10:g.43126720A>G | c.3185A>G | p.Y1062C | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43126720A>G | c.3185A>G | p.Y1062C | RefSeq | GRCh38/hg38 |
NM_020630.7 | chr10:g.43126720A>G | c.3185A>G | p.Y1062C | RefSeq | GRCh38/hg38 |
NM_020975.6 | chr10:g.43126720A>G | c.3185A>G | p.Y1062C | RefSeq | GRCh38/hg38 |
NM_020630.5 | chr10:g.43126720A>G | c.3185A>G | p.Y1062C | RefSeq | GRCh38/hg38 |
NM_001406744.1 | chr10:g.43126720A>G | c.3185A>G | p.Y1062C | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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