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Gene | TET2 |
Variant | W1291R |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | TET2 W1291R lies within the DNA-interacting region of the Tet2 protein (UniProt.org). W1291R results in a loss of Tet2 enzymatic activity in a cell free assay (PMID: 24315485) and the conserved position in mouse Tet2 is unable to convert 5mC to 5hmC (PMID: 21057493). |
Associated Drug Resistance | |
Category Variants Paths |
TET2 mutant TET2 inact mut TET2 W1291R |
Transcript | NM_001127208.3 |
gDNA | chr4:g.105259686T>A |
cDNA | c.3871T>A |
Protein | p.W1291R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001127208 | chr4:g.105259686T>A | c.3871T>A | p.W1291R | RefSeq | GRCh38/hg38 |
XM_005263082.3 | chr4:g.105259686T>A | c.3871T>A | p.W1291R | RefSeq | GRCh38/hg38 |
XM_024454102.2 | chr4:g.105259686T>A | c.3871T>A | p.W1291R | RefSeq | GRCh38/hg38 |
NM_001127208.3 | chr4:g.105259686T>A | c.3871T>A | p.W1291R | RefSeq | GRCh38/hg38 |
NM_001127208.2 | chr4:g.105259686T>A | c.3871T>A | p.W1291R | RefSeq | GRCh38/hg38 |
XM_024454103.1 | chr4:g.105259686T>A | c.3871T>A | p.W1291R | RefSeq | GRCh38/hg38 |
XM_024454103.2 | chr4:g.105259686T>A | c.3871T>A | p.W1291R | RefSeq | GRCh38/hg38 |
XM_005263082.4 | chr4:g.105259686T>A | c.3871T>A | p.W1291R | RefSeq | GRCh38/hg38 |
XM_005263082 | chr4:g.105259686T>A | c.3871T>A | p.W1291R | RefSeq | GRCh38/hg38 |
XM_024454102.1 | chr4:g.105259686T>A | c.3871T>A | p.W1291R | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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