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Gene | RET |
Variant | D567Y |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | RET D567Y lies within the extracellular domain of the Ret protein (UniProt.org). D567Y results in increased phosphorylation of Ret and Erk, IL3-independent growth in culture, and tumor formation in a mouse model (PMID: 36166639). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET act mut RET D567Y |
Transcript | NM_020975.6 |
gDNA | chr10:g.43112903G>T |
cDNA | c.1699G>T |
Protein | p.D567Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |