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Gene | RET |
Variant | C515S |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | RET C515S lies within the extracellular domain of the Ret protein (UniProt.org). C515S results in increased cell proliferation, Ret autophosphorylation in vitro and in vivo, and ligand-independent Ret homodimer formation (PMID: 18631007). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET act mut RET C515S |
Transcript | NM_020975.6 |
gDNA | chr10:g.43112119T>A |
cDNA | c.1543T>A |
Protein | p.C515S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |