Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | RET |
Variant | C618S |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | RET C618S lies within the extracellular domain of the Ret protein (UniProt.org). C618S is transforming in cell culture (PMID: 9230192), and therefore, is predicted to lead to a gain of Ret protein function. |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET act mut RET C618S RET mutant RET C618X RET C618S |
Transcript | NM_020975.6 |
gDNA | chr10:g.43113648T>A |
cDNA | c.1852T>A |
Protein | p.C618S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |