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| Gene | RET |
| Variant | C630F |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | RET C630F lies within the cysteine-rich region of the Ret protein (PMID: 9879991). C630F confers a gain of function on the Ret protein as indicated by Ret dimerization and transformation of cultured cells (PMID: 9230192). |
| Associated Drug Resistance | |
| Category Variants Paths |
RET mutant RET act mut RET C630F RET mutant RET C630X RET C630F |
| Transcript | NM_020975.6 |
| gDNA | chr10:g.43114489G>T |
| cDNA | c.1889G>T |
| Protein | p.C630F |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_020630.5 | chr10:g.43114489G>T | c.1889G>T | p.C630F | RefSeq | GRCh38/hg38 |
| NM_001406759.1 | chr10:g.43114489G>T | c.1889G>T | p.C630F | RefSeq | GRCh38/hg38 |
| NM_001406760.1 | chr10:g.43114489G>T | c.1889G>T | p.C630F | RefSeq | GRCh38/hg38 |
| NM_020630.7 | chr10:g.43114489G>T | c.1889G>T | p.C630F | RefSeq | GRCh38/hg38 |
| NM_001406744.1 | chr10:g.43114489G>T | c.1889G>T | p.C630F | RefSeq | GRCh38/hg38 |
| NM_001406743.1 | chr10:g.43114489G>T | c.1889G>T | p.C630F | RefSeq | GRCh38/hg38 |
| NM_020630 | chr10:g.43114489G>T | c.1889G>T | p.C630F | RefSeq | GRCh38/hg38 |
| NM_020975 | chr10:g.43114489G>T | c.1889G>T | p.C630F | RefSeq | GRCh38/hg38 |
| NM_020975.6 | chr10:g.43114489G>T | c.1889G>T | p.C630F | RefSeq | GRCh38/hg38 |
| NM_020975.5 | chr10:g.43114489G>T | c.1889G>T | p.C630F | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| RET C630F | gain of function | RET Inhibitor |