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Gene | TET2 |
Variant | G1256D |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TET2 G1256D lies within the catalytic domain of the Tet2 protein (PMID: 24315485). G1256D is predicted to confer a loss of function to the Tet2 protein as demonstrated by the lack of WT1 binding and localization to WT1 target genes in culture (PMID: 25601757). |
Associated Drug Resistance | |
Category Variants Paths |
TET2 mutant TET2 inact mut TET2 G1256D |
Transcript | NM_001127208.3 |
gDNA | chr4:g.105243742G>A |
cDNA | c.3767G>A |
Protein | p.G1256D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_024454102.2 | chr4:g.105243742G>A | c.3767G>A | p.G1256D | RefSeq | GRCh38/hg38 |
XM_024454103.1 | chr4:g.105243742G>A | c.3767G>A | p.G1256D | RefSeq | GRCh38/hg38 |
XM_005263082.3 | chr4:g.105243742G>A | c.3767G>A | p.G1256D | RefSeq | GRCh38/hg38 |
XM_005263082 | chr4:g.105243742G>A | c.3767G>A | p.G1256D | RefSeq | GRCh38/hg38 |
NM_001127208 | chr4:g.105243742G>A | c.3767G>A | p.G1256D | RefSeq | GRCh38/hg38 |
XM_024454102.1 | chr4:g.105243742G>A | c.3767G>A | p.G1256D | RefSeq | GRCh38/hg38 |
XM_005263082.4 | chr4:g.105243742G>A | c.3767G>A | p.G1256D | RefSeq | GRCh38/hg38 |
NM_001127208.3 | chr4:g.105243742G>A | c.3767G>A | p.G1256D | RefSeq | GRCh38/hg38 |
XM_024454103.2 | chr4:g.105243742G>A | c.3767G>A | p.G1256D | RefSeq | GRCh38/hg38 |
NM_001127208.2 | chr4:g.105243742G>A | c.3767G>A | p.G1256D | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
TET2 G1256D | loss of function - predicted |