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Gene | RET |
Variant | C609Y |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | RET C609Y lies within the extracellular domain of the Ret protein (UniProt.org). C609Y results in constitutive activation of Ret, increased resistance to apoptosis, transformation of cultured cells, and enhanced tumor growth in mouse models (PMID: 16715139, PMID: 9230192). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET act mut RET C609Y RET mutant RET C609X RET C609Y |
Transcript | NM_020975.6 |
gDNA | chr10:g.43113622G>A |
cDNA | c.1826G>A |
Protein | p.C609Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_020975.5 | chr10:g.43113622G>A | c.1826G>A | p.C609Y | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43113622G>A | c.1826G>A | p.C609Y | RefSeq | GRCh38/hg38 |
NM_020630.5 | chr10:g.43113622G>A | c.1826G>A | p.C609Y | RefSeq | GRCh38/hg38 |
NM_020975.6 | chr10:g.43113622G>A | c.1826G>A | p.C609Y | RefSeq | GRCh38/hg38 |
NM_001406763.1 | chr10:g.43113622G>A | c.1826G>A | p.C609Y | RefSeq | GRCh38/hg38 |
NM_020975 | chr10:g.43113622G>A | c.1826G>A | p.C609Y | RefSeq | GRCh38/hg38 |
NM_020630 | chr10:g.43113622G>A | c.1826G>A | p.C609Y | RefSeq | GRCh38/hg38 |
NM_001406759.1 | chr10:g.43113622G>A | c.1826G>A | p.C609Y | RefSeq | GRCh38/hg38 |
NM_001406744.1 | chr10:g.43113622G>A | c.1826G>A | p.C609Y | RefSeq | GRCh38/hg38 |
NM_001406765.1 | chr10:g.43113622G>A | c.1826G>A | p.C609Y | RefSeq | GRCh38/hg38 |
NM_020630.7 | chr10:g.43113622G>A | c.1826G>A | p.C609Y | RefSeq | GRCh38/hg38 |
NM_001406760.1 | chr10:g.43113622G>A | c.1826G>A | p.C609Y | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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