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Gene | TET2 |
Variant | Q742* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TET2 Q742* results in a premature truncation of the Tet2 protein at amino acid 742 of 2002 (UniProt.org). Q742* has not been characterized however, due to the effects of other truncation mutations downstream of Q742 (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 Q742* |
Transcript | NM_001127208.3 |
gDNA | chr4:g.105236166C>T |
cDNA | c.2224C>T |
Protein | p.Q742* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |