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Gene | TET2 |
Variant | K450* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TET2 K450* results in a premature truncation of the Tet2 protein at amino acid 450 of 2002 (UniProt.org). K450* has not been characterized however, due to the effects of other truncation mutations downstream of K450 (PMID: 24994606), is predicted to lead to a loss of Tet2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
TET2 mutant TET2 inact mut TET2 K450* |
Transcript | NM_001127208.3 |
gDNA | chr4:g.105235290A>T |
cDNA | c.1348A>T |
Protein | p.K450* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |