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Gene | RET |
Variant | C630S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | RET C630S lies within the cysteine-rich region of the Ret protein (PMID: 9879991). C630S has been identified in the scientific literature (PMID: 28676824, PMID: 15523405, PMID: 35574005), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET C630X RET C630S |
Transcript | NM_020975.6 |
gDNA | chr10:g.43114488T>A |
cDNA | c.1888T>A |
Protein | p.C630S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001406744.1 | chr10:g.43114488T>A | c.1888T>A | p.C630S | RefSeq | GRCh38/hg38 |
NM_001406760.1 | chr10:g.43114488T>A | c.1888T>A | p.C630S | RefSeq | GRCh38/hg38 |
NM_020975.5 | chr10:g.43114488T>A | c.1888T>A | p.C630S | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43114488T>A | c.1888T>A | p.C630S | RefSeq | GRCh38/hg38 |
NM_001406759.1 | chr10:g.43114488T>A | c.1888T>A | p.C630S | RefSeq | GRCh38/hg38 |
NM_020975.6 | chr10:g.43114488T>A | c.1888T>A | p.C630S | RefSeq | GRCh38/hg38 |
NM_020975 | chr10:g.43114488T>A | c.1888T>A | p.C630S | RefSeq | GRCh38/hg38 |
NM_020630.7 | chr10:g.43114488T>A | c.1888T>A | p.C630S | RefSeq | GRCh38/hg38 |
NM_020630 | chr10:g.43114488T>A | c.1888T>A | p.C630S | RefSeq | GRCh38/hg38 |
NM_020630.5 | chr10:g.43114488T>A | c.1888T>A | p.C630S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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