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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 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001127208.2 | chr4:g.105237129dupA | c.3187dupA | p.T1063Nfs*5 | RefSeq | GRCh38/hg38 |
XM_005263082.3 | chr4:g.105237129dupA | c.3187dupA | p.T1063Nfs*5 | RefSeq | GRCh38/hg38 |
XM_047415843.1 | chr4:g.105237129dupA | c.3187dupA | p.T1063Nfs*5 | RefSeq | GRCh38/hg38 |
XM_047415840.1 | chr4:g.105237129dupA | c.3187dupA | p.T1063Nfs*5 | RefSeq | GRCh38/hg38 |
NM_001127208.3 | chr4:g.105237129dupA | c.3187dupA | p.T1063Nfs*5 | RefSeq | GRCh38/hg38 |
XM_005263082.4 | chr4:g.105237129dupA | c.3187dupA | p.T1063Nfs*5 | RefSeq | GRCh38/hg38 |
NM_017628.4 | chr4:g.105237129dupA | c.3187dupA | p.T1063Nfs*5 | RefSeq | GRCh38/hg38 |
XM_047415839.1 | chr4:g.105237129dupA | c.3187dupA | p.T1063Nfs*5 | RefSeq | GRCh38/hg38 |
XM_024454103.1 | chr4:g.105237129dupA | c.3187dupA | p.T1063Nfs*5 | RefSeq | GRCh38/hg38 |
XM_024454102.1 | chr4:g.105237129dupA | c.3187dupA | p.T1063Nfs*5 | RefSeq | GRCh38/hg38 |
XM_006714242.4 | chr4:g.105237129dupA | c.3187dupA | p.T1063Nfs*5 | RefSeq | GRCh38/hg38 |
XM_024454103.2 | chr4:g.105237129dupA | c.3187dupA | p.T1063Nfs*5 | RefSeq | GRCh38/hg38 |
XM_024454102.2 | chr4:g.105237129dupA | c.3187dupA | p.T1063Nfs*5 | RefSeq | GRCh38/hg38 |
XM_006714242.3 | chr4:g.105237129dupA | c.3187dupA | p.T1063Nfs*5 | RefSeq | GRCh38/hg38 |
XM_047415842.1 | chr4:g.105237129dupA | c.3187dupA | p.T1063Nfs*5 | RefSeq | GRCh38/hg38 |
NM_017628.4 | chr4:g.105237129dupA | c.3187dupA | p.T1063Nfs*5 | RefSeq | GRCh38/hg38 |
XM_017008319.1 | chr4:g.105237129dupA | c.3187dupA | p.T1063Nfs*5 | RefSeq | GRCh38/hg38 |
XM_047415841.1 | chr4:g.105237129dupA | c.3187dupA | p.T1063Nfs*5 | RefSeq | GRCh38/hg38 |
XM_017008319.2 | chr4:g.105237129dupA | c.3187dupA | p.T1063Nfs*5 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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