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 | S1758* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TET2 S1758* results in a premature truncation of the Tet2 protein at amino acid 1758 of 2002 (UniProt.org). S1758* results in a loss of 5-hydroxymethylcytosine (5hmc) formation in cultured cells (PMID: 24994606), and therefore, is predicted to lead to a loss of Tet2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
TET2 mutant TET2 inact mut TET2 S1758* |
Transcript | NM_001127208.3 |
gDNA | chr4:g.105275783C>A |
cDNA | c.5273C>A |
Protein | p.S1758* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |