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Gene | RET |
Variant | Y606C |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | RET Y606C lies within the extracellular domain of the Ret protein (UniProt.org). Y606C results in ligand independent dimerization and constitutive phosphorylation of Ret, increased Erk2 phosphorylation (PMID: 18248647, PMID: 36166639), and transformation in culture (PMID: 36166639). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET act mut RET Y606C |
Transcript | NM_020975.6 |
gDNA | chr10:g.43113613A>G |
cDNA | c.1817A>G |
Protein | p.Y606C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |