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Gene | RET |
Variant | R833C |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | RET R833C lies within the protein kinase domain of the Ret protein (UniProt.org). R833C results in increased Ret autophosphorylation, tumor formation in animal models, and is transforming in cell culture (PMID: 16469774). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET act mut RET R833C |
Transcript | NM_020975.6 |
gDNA | chr10:g.43119635C>T |
cDNA | c.2497C>T |
Protein | p.R833C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001406760.1 | chr10:g.43119635C>T | c.2497C>T | p.R833C | RefSeq | GRCh38/hg38 |
NM_001406763.1 | chr10:g.43120105_43120107delAGAinsTGT | c.2497_2499delAGAinsTGT | p.R833C | RefSeq | GRCh38/hg38 |
NM_001406744.1 | chr10:g.43119635C>T | c.2497C>T | p.R833C | RefSeq | GRCh38/hg38 |
NM_020630.7 | chr10:g.43119635C>T | c.2497C>T | p.R833C | RefSeq | GRCh38/hg38 |
NM_001406759.1 | chr10:g.43119635C>T | c.2497C>T | p.R833C | RefSeq | GRCh38/hg38 |
NM_001406765.1 | chr10:g.43120105_43120107delAGAinsTGT | c.2497_2499delAGAinsTGT | p.R833C | RefSeq | GRCh38/hg38 |
NM_020630.5 | chr10:g.43119635C>T | c.2497C>T | p.R833C | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43119635C>T | c.2497C>T | p.R833C | RefSeq | GRCh38/hg38 |
NM_020975.6 | chr10:g.43119635C>T | c.2497C>T | p.R833C | RefSeq | GRCh38/hg38 |
NM_020975 | chr10:g.43119635C>T | c.2497C>T | p.R833C | RefSeq | GRCh38/hg38 |
NM_020630 | chr10:g.43119635C>T | c.2497C>T | p.R833C | RefSeq | GRCh38/hg38 |
NM_020975.5 | chr10:g.43119635C>T | c.2497C>T | p.R833C | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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