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 | R1067* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TET2 R1067* results in a premature truncation of the Tet2 protein at amino acid 1067 of 2002 (UniProt.org). R1067* has not been characterized however, due to the effects of other truncation mutations downstream of R1067 (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 R1067* |
Transcript | NM_001127208.3 |
gDNA | chr4:g.105237141A>T |
cDNA | c.3199A>T |
Protein | p.R1067* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047415843.1 | chr4:g.105237141A>T | c.3199A>T | p.R1067* | RefSeq | GRCh38/hg38 |
XM_024454103.1 | chr4:g.105237141A>T | c.3199A>T | p.R1067* | RefSeq | GRCh38/hg38 |
XM_006714242.4 | chr4:g.105237141A>T | c.3199A>T | p.R1067* | RefSeq | GRCh38/hg38 |
XM_005263082.4 | chr4:g.105237141A>T | c.3199A>T | p.R1067* | RefSeq | GRCh38/hg38 |
XM_024454103.2 | chr4:g.105237141A>T | c.3199A>T | p.R1067* | RefSeq | GRCh38/hg38 |
XM_006714242.3 | chr4:g.105237141A>T | c.3199A>T | p.R1067* | RefSeq | GRCh38/hg38 |
XM_005263082.3 | chr4:g.105237141A>T | c.3199A>T | p.R1067* | RefSeq | GRCh38/hg38 |
NM_001127208.2 | chr4:g.105237141A>T | c.3199A>T | p.R1067* | RefSeq | GRCh38/hg38 |
NM_001127208.3 | chr4:g.105237141A>T | c.3199A>T | p.R1067* | RefSeq | GRCh38/hg38 |
NM_017628.4 | chr4:g.105237141A>T | c.3199A>T | p.R1067* | RefSeq | GRCh38/hg38 |
XM_017008319.1 | chr4:g.105237141A>T | c.3199A>T | p.R1067* | RefSeq | GRCh38/hg38 |
XM_047415840.1 | chr4:g.105237141A>T | c.3199A>T | p.R1067* | RefSeq | GRCh38/hg38 |
XM_024454102.2 | chr4:g.105237141A>T | c.3199A>T | p.R1067* | RefSeq | GRCh38/hg38 |
XM_047415842.1 | chr4:g.105237141A>T | c.3199A>T | p.R1067* | RefSeq | GRCh38/hg38 |
XM_047415839.1 | chr4:g.105237141A>T | c.3199A>T | p.R1067* | RefSeq | GRCh38/hg38 |
NM_017628.4 | chr4:g.105237141A>T | c.3199A>T | p.R1067* | RefSeq | GRCh38/hg38 |
XM_017008319.2 | chr4:g.105237141A>T | c.3199A>T | p.R1067* | RefSeq | GRCh38/hg38 |
XM_024454102.1 | chr4:g.105237141A>T | c.3199A>T | p.R1067* | RefSeq | GRCh38/hg38 |
XM_047415841.1 | chr4:g.105237141A>T | c.3199A>T | p.R1067* | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|