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 | C1273F |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | TET2 C1273F lies within the catalytic domain of the Tet2 protein (PMID: 24315485). C1273F has been identified in sequencing studies (PMID: 27276561), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Oct 2024). |
Associated Drug Resistance | |
Category Variants Paths |
TET2 mutant TET2 C1273F |
Transcript | NM_001127208.3 |
gDNA | chr4:g.105259633G>T |
cDNA | c.3818G>T |
Protein | p.C1273F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005263082.3 | chr4:g.105259633G>T | c.3818G>T | p.C1273F | RefSeq | GRCh38/hg38 |
XM_024454103.1 | chr4:g.105259633G>T | c.3818G>T | p.C1273F | RefSeq | GRCh38/hg38 |
NM_001127208.2 | chr4:g.105259633G>T | c.3818G>T | p.C1273F | RefSeq | GRCh38/hg38 |
XM_024454103.2 | chr4:g.105259633G>T | c.3818G>T | p.C1273F | RefSeq | GRCh38/hg38 |
XM_005263082 | chr4:g.105259633G>T | c.3818G>T | p.C1273F | RefSeq | GRCh38/hg38 |
XM_005263082.4 | chr4:g.105259633G>T | c.3818G>T | p.C1273F | RefSeq | GRCh38/hg38 |
NM_001127208.3 | chr4:g.105259633G>T | c.3818G>T | p.C1273F | RefSeq | GRCh38/hg38 |
XM_024454102.1 | chr4:g.105259633G>T | c.3818G>T | p.C1273F | RefSeq | GRCh38/hg38 |
NM_001127208 | chr4:g.105259633G>T | c.3818G>T | p.C1273F | RefSeq | GRCh38/hg38 |
XM_024454102.2 | chr4:g.105259633G>T | c.3818G>T | p.C1273F | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|