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Gene | RET |
Variant | A883F |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | RET A883F lies within the protein kinase domain of the Ret protein (UniProt.org). A883F confers a gain of function to the Ret protein as demonstrated by increased Ret kinase activity (PMID: 24561444) and is transforming in cell culture (PMID: 10445857, PMID: 10679286). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET A883X RET A883F RET mutant RET act mut RET A883F |
Transcript | NM_020975.6 |
gDNA | chr10:g.43120120_43120121delGCinsTT |
cDNA | c.2647_2648delGCinsTT |
Protein | p.A883F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |