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Gene | RET |
Variant | I852M |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | RET I852M lies within the protein kinase domain of the Ret protein (UniProt.org). I852M confers a gain of function on the Ret protein as demonstrated by constitutive activation of Ret, increased cell proliferation, elevated migration activity, and modest transforming ability in culture (PMID: 21711375). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET act mut RET I852M |
Transcript | NM_020975.6 |
gDNA | chr10:g.43119694C>G |
cDNA | c.2556C>G |
Protein | p.I852M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |