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 | T930P |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | RET T930P lies within the protein kinase domain of the Ret protein (UniProt.org). T930P results in Erk phosphorylation similar to wild-type Ret but cytokine-independent growth in culture (PMID: 32284345), 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 T930P |
Transcript | NM_020975.6 |
gDNA | chr10:g.43122003A>C |
cDNA | c.2788A>C |
Protein | p.T930P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |