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Gene | RET |
Variant | R133C |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | RET R133C lies within the extracellular domain of the Ret protein (UniProt.org). R133C has been identified in sequencing studies (PMID: 32284345, PMID: 34741450), 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 R133C |
Transcript | NM_020975.6 |
gDNA | chr10:g.43102401C>T |
cDNA | c.397C>T |
Protein | p.R133C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_020630.5 | chr10:g.43102401C>T | c.397C>T | p.R133C | RefSeq | GRCh38/hg38 |
NM_001406765.1 | chr10:g.43102401C>T | c.397C>T | p.R133C | RefSeq | GRCh38/hg38 |
NM_001406785.1 | chr10:g.43102401C>T | c.397C>T | p.R133C | RefSeq | GRCh38/hg38 |
NM_001406772.1 | chr10:g.43102401C>T | c.397C>T | p.R133C | RefSeq | GRCh38/hg38 |
NM_001406763.1 | chr10:g.43102401C>T | c.397C>T | p.R133C | RefSeq | GRCh38/hg38 |
NM_001406769.1 | chr10:g.43102401C>T | c.397C>T | p.R133C | RefSeq | GRCh38/hg38 |
NM_001406780.1 | chr10:g.43102401C>T | c.397C>T | p.R133C | RefSeq | GRCh38/hg38 |
NM_001406787.1 | chr10:g.43102401C>T | c.397C>T | p.R133C | RefSeq | GRCh38/hg38 |
NM_001406781.1 | chr10:g.43102401C>T | c.397C>T | p.R133C | RefSeq | GRCh38/hg38 |
NM_001406771.1 | chr10:g.43102401C>T | c.397C>T | p.R133C | RefSeq | GRCh38/hg38 |
NM_001406759.1 | chr10:g.43102401C>T | c.397C>T | p.R133C | RefSeq | GRCh38/hg38 |
NM_001406779.1 | chr10:g.43102401C>T | c.397C>T | p.R133C | RefSeq | GRCh38/hg38 |
NM_020975.6 | chr10:g.43102401C>T | c.397C>T | p.R133C | RefSeq | GRCh38/hg38 |
NM_001406760.1 | chr10:g.43102401C>T | c.397C>T | p.R133C | RefSeq | GRCh38/hg38 |
NM_001406744.1 | chr10:g.43102401C>T | c.397C>T | p.R133C | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43102401C>T | c.397C>T | p.R133C | RefSeq | GRCh38/hg38 |
NM_020630.7 | chr10:g.43102401C>T | c.397C>T | p.R133C | RefSeq | GRCh38/hg38 |
NM_001406773.1 | chr10:g.43102401C>T | c.397C>T | p.R133C | RefSeq | GRCh38/hg38 |
NM_020975.5 | chr10:g.43102401C>T | c.397C>T | p.R133C | RefSeq | GRCh38/hg38 |
NM_001406782.1 | chr10:g.43102401C>T | c.397C>T | p.R133C | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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