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| Gene | RET |
| Variant | C630R |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | RET C630R lies within the cysteine-rich region of the Ret protein (PMID: 9879991). C630R results in constitutive Ret phosphorylation and increased Ret kinase activity, formation of covalent Ret homodimers, and is transforming in cell culture (PMID: 9879991, PMID: 9230192). |
| Associated Drug Resistance | |
| Category Variants Paths |
RET mutant RET act mut RET C630R RET mutant RET C630X RET C630R |
| Transcript | NM_020975.6 |
| gDNA | chr10:g.43114488T>C |
| cDNA | c.1888T>C |
| Protein | p.C630R |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |