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Gene | RET |
Variant | Y791F |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | RET Y791F lies within the protein kinase domain of the Ret protein (UniProt.org). Y791F results in ligand-independent kinase activity and activation of Stat3 signaling and is transforming in cell culture (PMID: 17209045, PMID: 15753368), but does not respond to growth factor stimulation in culture (PMID: 17209045) and results in enteric nervous system development similar to wild-type in a transgenic mouse model (PMID: 32275061), and therefore, its effect on Ret protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET Y791X RET Y791F |
Transcript | NM_020975.6 |
gDNA | chr10:g.43118460A>T |
cDNA | c.2372A>T |
Protein | p.Y791F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |