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Gene | RET |
Variant | A510V |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | RET A510V lies within the extracellular domain of the Ret protein (UniProt.org). A510V confers a gain of function to Ret as demonstrated by increased Ret and Erk phosphorylation and transformation in cultured cells (PMID: 20103606). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET act mut RET A510V |
Transcript | NM_020975.6 |
gDNA | chr10:g.43112105C>T |
cDNA | c.1529C>T |
Protein | p.A510V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |