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Gene | TET2 |
Variant | T1063Nfs*5 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TET2 T1063Nfs*5 indicates a shift in the reading frame starting at amino acid 1063 and terminating 5 residues downstream causing a premature truncation of the 2002 amino acid Tet2 protein (UniProt.org). T1063Nfs*5 has not been characterized however, due to the effects of other truncation mutations downstream of T1063 (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 T1063Nfs*5 |
Transcript | NM_001127208.3 |
gDNA | chr4:g.105237129dupA |
cDNA | c.3187dupA |
Protein | p.T1063Nfs*5 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |