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Gene | RET |
Variant | E632_L633del |
Impact List | deletion |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | RET E632_L633del results in the deletion of two amino acids in the cysteine-rich region of the Ret protein from amino acids 632 to 633 (PMID: 9879991). E632_L633del is transforming in cell culture (PMID: 9191060), and therefore, is predicted to lead to a gain of Ret protein function. |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET act mut RET E632_L633del |
Transcript | NM_020975.6 |
gDNA | chr10:g.43114494_43114499delGAGCTG |
cDNA | c.1894_1899delGAGCTG |
Protein | p.E632_L633delEL |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |