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| Gene | RET |
| Variant | C634L |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | RET C634L lies within the cysteine-rich region of the Ret protein (PMID: 9879991). C634L results in ligand-independent dimerization of Ret and increased cell proliferation in culture (PMID: 27841748). |
| Associated Drug Resistance | |
| Category Variants Paths |
RET mutant RET act mut RET C634L RET mutant RET C634X RET C634L |
| Transcript | NM_020975.6 |
| gDNA | chr10:g.43114500_43114501delTGinsCT |
| cDNA | c.1900_1901delTGinsCT |
| Protein | p.C634L |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_020975.5 | chr10:g.43114500_43114501delTGinsCT | c.1900_1901delTGinsCT | p.C634L | RefSeq | GRCh38/hg38 |
| NM_001406744.1 | chr10:g.43114500_43114501delTGinsCT | c.1900_1901delTGinsCT | p.C634L | RefSeq | GRCh38/hg38 |
| NM_001406759.1 | chr10:g.43114500_43114501delTGinsCT | c.1900_1901delTGinsCT | p.C634L | RefSeq | GRCh38/hg38 |
| NM_020630.5 | chr10:g.43114500_43114501delTGinsCT | c.1900_1901delTGinsCT | p.C634L | RefSeq | GRCh38/hg38 |
| NM_020630.7 | chr10:g.43114500_43114501delTGinsCT | c.1900_1901delTGinsCT | p.C634L | RefSeq | GRCh38/hg38 |
| NM_001406743.1 | chr10:g.43114500_43114501delTGinsCT | c.1900_1901delTGinsCT | p.C634L | RefSeq | GRCh38/hg38 |
| NM_020975.6 | chr10:g.43114500_43114501delTGinsCT | c.1900_1901delTGinsCT | p.C634L | RefSeq | GRCh38/hg38 |
| NM_001406786.1 | chr10:g.43123795_43123796delTGinsCT | c.1900_1901delTGinsCT | p.C634L | RefSeq | GRCh38/hg38 |
| NM_020975 | chr10:g.43114500_43114501delTGinsCT | c.1900_1901delTGinsCT | p.C634L | RefSeq | GRCh38/hg38 |
| NM_001406760.1 | chr10:g.43114500_43114501delTGinsCT | c.1900_1901delTGinsCT | p.C634L | RefSeq | GRCh38/hg38 |
| NM_001406783.1 | chr10:g.43123795_43123796delTGinsCT | c.1900_1901delTGinsCT | p.C634L | RefSeq | GRCh38/hg38 |
| NM_020630 | chr10:g.43114500_43114501delTGinsCT | c.1900_1901delTGinsCT | p.C634L | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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