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Gene | RET |
Variant | D898_E901del |
Impact List | deletion |
Protein Effect | gain of function |
Gene Variant Descriptions | RET D898_E901del results in the deletion of four amino acids in the protein kinase domain of the Ret protein from amino acids 898 to 901 (UniProt.org). D898_E901del confers a gain of function to Ret as demonstrated by increased Erk phosphorylation (PMID: 32284345), increased Ret phosphorlyation, (PMID: 37535881), cytokine-independent growth in culture (PMID: 32284345, PMID: 37535881), and tumor formation in a mouse model (PMID: 37535881). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET act mut RET D898_E901del |
Transcript | NM_020975.6 |
gDNA | chr10:g.43120167_43120178del12 |
cDNA | c.2694_2705del12 |
Protein | p.D898_E901delDVYE |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |