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Gene | RET |
Variant | V292M |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | RET V292M lies within the cadherin-like domain 3 of the Ret protein (PMID: 20039896). V292M results in Ret autophosphorylation, increased phosphorylation of Mapk, Mek, and Shc, increased cell proliferation, but has low transforming activity in culture (PMID: 20039896). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET act mut RET V292M |
Transcript | NM_020975.6 |
gDNA | chr10:g.43106382G>A |
cDNA | c.874G>A |
Protein | p.V292M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |