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Gene | TET2 |
Variant | W1291_N1296delinsGGSGGS |
Impact List | indel |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TET2 W1291_N1296delinsGGSGGS results in a deletion of six amino acids in the DNA-interacting region of the Tet2 protein from amino acids 1291 to 1296, combined with the insertion of six amino acids at the same site (UniProt.org). W1291_N1296delinsGGSGGS is predicted to confer a loss of function to the Tet2 protein as demonstrated by loss of enzymatic activity in cultured cells (PMID: 24315485). |
Associated Drug Resistance | |
Category Variants Paths |
TET2 mutant TET2 inact mut TET2 W1291_N1296delinsGGSGGS |
Transcript | NM_001127208.3 |
gDNA | chr4:g.105259686_105259703delinsGGTGGTAGCGGTGGTAGC |
cDNA | c.3871_3888delinsGGTGGTAGCGGTGGTAGC |
Protein | p.W1291_N1296delinsGGSGGS |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_024454102.1 | chr4:g.105259686_105259703delinsGGTGGTAGCGGTGGTAGC | c.3871_3888delinsGGTGGTAGCGGTGGTAGC | p.W1291_N1296delinsGGSGGS | RefSeq | GRCh38/hg38 |
XM_024454103.2 | chr4:g.105259686_105259703delinsGGTGGTAGCGGTGGTAGC | c.3871_3888delinsGGTGGTAGCGGTGGTAGC | p.W1291_N1296delinsGGSGGS | RefSeq | GRCh38/hg38 |
XM_024454102.2 | chr4:g.105259686_105259703delinsGGTGGTAGCGGTGGTAGC | c.3871_3888delinsGGTGGTAGCGGTGGTAGC | p.W1291_N1296delinsGGSGGS | RefSeq | GRCh38/hg38 |
NM_001127208.3 | chr4:g.105259686_105259703delinsGGTGGTAGCGGTGGTAGC | c.3871_3888delinsGGTGGTAGCGGTGGTAGC | p.W1291_N1296delinsGGSGGS | RefSeq | GRCh38/hg38 |
XM_005263082 | chr4:g.105259686_105259703delinsGGTGGTAGCGGTGGTAGC | c.3871_3888delinsGGTGGTAGCGGTGGTAGC | p.W1291_N1296delinsGGSGGS | RefSeq | GRCh38/hg38 |
XM_005263082.4 | chr4:g.105259686_105259703delinsGGTGGTAGCGGTGGTAGC | c.3871_3888delinsGGTGGTAGCGGTGGTAGC | p.W1291_N1296delinsGGSGGS | RefSeq | GRCh38/hg38 |
NM_001127208.2 | chr4:g.105259686_105259703delinsGGTGGTAGCGGTGGTAGC | c.3871_3888delinsGGTGGTAGCGGTGGTAGC | p.W1291_N1296delinsGGSGGS | RefSeq | GRCh38/hg38 |
XM_005263082.3 | chr4:g.105259686_105259703delinsGGTGGTAGCGGTGGTAGC | c.3871_3888delinsGGTGGTAGCGGTGGTAGC | p.W1291_N1296delinsGGSGGS | RefSeq | GRCh38/hg38 |
XM_024454103.1 | chr4:g.105259686_105259703delinsGGTGGTAGCGGTGGTAGC | c.3871_3888delinsGGTGGTAGCGGTGGTAGC | p.W1291_N1296delinsGGSGGS | RefSeq | GRCh38/hg38 |
NM_001127208 | chr4:g.105259686_105259703delinsGGTGGTAGCGGTGGTAGC | c.3871_3888delinsGGTGGTAGCGGTGGTAGC | p.W1291_N1296delinsGGSGGS | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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