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Gene | RET |
Variant | C634G |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | RET C634G lies within the cysteine-rich region of the Ret protein (PMID: 9879991). C634G is transforming in cell culture (PMID: 9230192), and therefore, is predicted to lead to a gain of Ret protein function. |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET act mut RET C634G RET mutant RET C634X RET C634G |
Transcript | NM_020975.6 |
gDNA | chr10:g.43114500T>G |
cDNA | c.1900T>G |
Protein | p.C634G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_020975 | chr10:g.43114500T>G | c.1900T>G | p.C634G | RefSeq | GRCh38/hg38 |
NM_001406744.1 | chr10:g.43114500T>G | c.1900T>G | p.C634G | RefSeq | GRCh38/hg38 |
NM_020975.5 | chr10:g.43114500T>G | c.1900T>G | p.C634G | RefSeq | GRCh38/hg38 |
NM_020630.5 | chr10:g.43114500T>G | c.1900T>G | p.C634G | RefSeq | GRCh38/hg38 |
NM_020630 | chr10:g.43114500T>G | c.1900T>G | p.C634G | RefSeq | GRCh38/hg38 |
NM_001406760.1 | chr10:g.43114500T>G | c.1900T>G | p.C634G | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43114500T>G | c.1900T>G | p.C634G | RefSeq | GRCh38/hg38 |
NM_020975.6 | chr10:g.43114500T>G | c.1900T>G | p.C634G | RefSeq | GRCh38/hg38 |
NM_001406759.1 | chr10:g.43114500T>G | c.1900T>G | p.C634G | RefSeq | GRCh38/hg38 |
NM_001406783.1 | chr10:g.43123795T>G | c.1900T>G | p.C634G | RefSeq | GRCh38/hg38 |
NM_001406786.1 | chr10:g.43123795T>G | c.1900T>G | p.C634G | RefSeq | GRCh38/hg38 |
NM_020630.7 | chr10:g.43114500T>G | c.1900T>G | p.C634G | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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