Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | TET2 |
Variant | W1198* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TET2 W1198* results in a premature truncation of the Tet2 protein at amino acid 1198 of 2002 (UniProt.org). W1198* has not been characterized however, due to the effects of other truncation mutations downstream of W1198 (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 W1198* |
Transcript | NM_001127208.3 |
gDNA | chr4:g.105242926G>A |
cDNA | c.3593G>A |
Protein | p.W1198* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_024454103.2 | chr4:g.105242926G>A | c.3593G>A | p.W1198* | RefSeq | GRCh38/hg38 |
XM_047415840.1 | chr4:g.105242926G>A | c.3593G>A | p.W1198* | RefSeq | GRCh38/hg38 |
XM_024454102.2 | chr4:g.105242926G>A | c.3593G>A | p.W1198* | RefSeq | GRCh38/hg38 |
XM_024454102.1 | chr4:g.105242926G>A | c.3593G>A | p.W1198* | RefSeq | GRCh38/hg38 |
NM_001127208.2 | chr4:g.105242926G>A | c.3593G>A | p.W1198* | RefSeq | GRCh38/hg38 |
XM_005263082.3 | chr4:g.105242926G>A | c.3593G>A | p.W1198* | RefSeq | GRCh38/hg38 |
XM_005263082.4 | chr4:g.105242926G>A | c.3593G>A | p.W1198* | RefSeq | GRCh38/hg38 |
XM_024454103.1 | chr4:g.105242926G>A | c.3593G>A | p.W1198* | RefSeq | GRCh38/hg38 |
NM_001127208.3 | chr4:g.105242926G>A | c.3593G>A | p.W1198* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|