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Gene | TET2 |
Variant | R1896S |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | TET2 R1896S lies within the catalytic domain of the Tet2 protein (PMID: 24315485). R1896S confers a loss of function to the Tet2 protein as demonstrated by decreased Tet2 methylcytosine dioxygenase activity (PMID: 24697267) and decreased induction of CXCL10 and PD-L1 expression via IFN-gamma in cultured cells (PMID: 31310587). |
Associated Drug Resistance | |
Category Variants Paths |
TET2 mutant TET2 inact mut TET2 R1896S |
Transcript | NM_001127208.3 |
gDNA | chr4:g.105276198G>C |
cDNA | c.5688G>C |
Protein | p.R1896S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001127208.2 | chr4:g.105276198G>C | c.5688G>C | p.R1896S | RefSeq | GRCh38/hg38 |
XM_005263082 | chr4:g.105276198G>C | c.5688G>C | p.R1896S | RefSeq | GRCh38/hg38 |
XM_024454102.2 | chr4:g.105276198G>C | c.5688G>C | p.R1896S | RefSeq | GRCh38/hg38 |
XM_024454103.2 | chr4:g.105276198G>C | c.5688G>C | p.R1896S | RefSeq | GRCh38/hg38 |
XM_005263082.4 | chr4:g.105276198G>C | c.5688G>C | p.R1896S | RefSeq | GRCh38/hg38 |
XM_024454102.1 | chr4:g.105276198G>C | c.5688G>C | p.R1896S | RefSeq | GRCh38/hg38 |
XM_005263082.3 | chr4:g.105276198G>C | c.5688G>C | p.R1896S | RefSeq | GRCh38/hg38 |
NM_001127208 | chr4:g.105276198G>C | c.5688G>C | p.R1896S | RefSeq | GRCh38/hg38 |
NM_001127208.3 | chr4:g.105276198G>C | c.5688G>C | p.R1896S | RefSeq | GRCh38/hg38 |
XM_024454103.1 | chr4:g.105276198G>C | c.5688G>C | p.R1896S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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