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Gene | TET2 |
Variant | S1369* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TET2 S1369* results in a premature truncation of the Tet2 protein at amino acid 1369 of 2002 (UniProt.org). S1369* has not been characterized however, due to the effects of other truncation mutations downstream of S1369 (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 S1369* |
Transcript | NM_001127208.3 |
gDNA | chr4:g.105269671C>A |
cDNA | c.4106C>A |
Protein | p.S1369* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005263082.3 | chr4:g.105269671C>A | c.4106C>A | p.S1369* | RefSeq | GRCh38/hg38 |
NM_001127208 | chr4:g.105269671C>A | c.4106C>A | p.S1369* | RefSeq | GRCh38/hg38 |
NM_001127208.2 | chr4:g.105269671C>A | c.4106C>A | p.S1369* | RefSeq | GRCh38/hg38 |
XM_024454102.2 | chr4:g.105269671C>A | c.4106C>A | p.S1369* | RefSeq | GRCh38/hg38 |
XM_024454102.1 | chr4:g.105269671C>A | c.4106C>A | p.S1369* | RefSeq | GRCh38/hg38 |
XM_024454103.2 | chr4:g.105269671C>A | c.4106C>A | p.S1369* | RefSeq | GRCh38/hg38 |
NM_001127208.3 | chr4:g.105269671C>A | c.4106C>A | p.S1369* | RefSeq | GRCh38/hg38 |
XM_005263082.4 | chr4:g.105269671C>A | c.4106C>A | p.S1369* | RefSeq | GRCh38/hg38 |
XM_005263082 | chr4:g.105269671C>A | c.4106C>A | p.S1369* | RefSeq | GRCh38/hg38 |
XM_024454103.1 | chr4:g.105269671C>A | c.4106C>A | p.S1369* | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
TET2 S1369* | loss of function - predicted |