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 | E505_G506del |
Impact List | deletion |
Protein Effect | gain of function |
Gene Variant Descriptions | RET E505_G506del results in the deletion of 2 amino acids in the extracellular domain of the Ret protein from amino acids 505 to 506 (UniProt.org). E505_G506del confers a gain of function to the Ret protein as evidenced by increased Mapk pathway activation, phosphorylation of Ret, Akt, and Erk, and increased colony formation in culture (PMID: 26765577). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET act mut RET E505_G506del |
Transcript | NM_020975.6 |
gDNA | chr10:g.43111456_43111461delGAGGGG |
cDNA | c.1513_1518delGAGGGG |
Protein | p.E505_G506delEG |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |