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Gene | RET |
Variant | E574D |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | RET E574D lies within the extracellular domain of the Ret protein (UniProt.org). E574D confers a gain of function to Ret as demonstrated by increased Erk phosphorylation and IL3-independent growth in culture (PMID: 36166639). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET act mut RET E574D |
Transcript | NM_020975.6 |
gDNA | chr10:g.43112926G>C |
cDNA | c.1722G>C |
Protein | p.E574D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |