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Gene | RET |
Variant | C630R |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | RET C630R lies within the cysteine-rich region of the Ret protein (PMID: 9879991). C630R results in constitutive Ret phosphorylation and increased Ret kinase activity, formation of covalent Ret homodimers, and is transforming in cell culture (PMID: 9879991, PMID: 9230192). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET act mut RET C630R RET mutant RET C630X RET C630R |
Transcript | NM_020975.6 |
gDNA | chr10:g.43114488T>C |
cDNA | c.1888T>C |
Protein | p.C630R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_020630.5 | chr10:g.43114488T>C | c.1888T>C | p.C630R | RefSeq | GRCh38/hg38 |
NM_001406759.1 | chr10:g.43114488T>C | c.1888T>C | p.C630R | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43114488T>C | c.1888T>C | p.C630R | RefSeq | GRCh38/hg38 |
NM_020975.5 | chr10:g.43114488T>C | c.1888T>C | p.C630R | RefSeq | GRCh38/hg38 |
NM_020975 | chr10:g.43114488T>C | c.1888T>C | p.C630R | RefSeq | GRCh38/hg38 |
NM_020630 | chr10:g.43114488T>C | c.1888T>C | p.C630R | RefSeq | GRCh38/hg38 |
NM_001406744.1 | chr10:g.43114488T>C | c.1888T>C | p.C630R | RefSeq | GRCh38/hg38 |
NM_001406760.1 | chr10:g.43114488T>C | c.1888T>C | p.C630R | RefSeq | GRCh38/hg38 |
NM_020630.7 | chr10:g.43114488T>C | c.1888T>C | p.C630R | RefSeq | GRCh38/hg38 |
NM_020975.6 | chr10:g.43114488T>C | c.1888T>C | p.C630R | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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