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 | ATRX |
Variant | S458* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ATRX S458* results in a premature truncation of the Atrx protein at amino acid 458 of 2492 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), S458* is predicted to lead to a loss of Atrx protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ATRX mutant ATRX inact mut ATRX S458* |
Transcript | NM_000489.6 |
gDNA | chrX:g.77683883G>T |
cDNA | c.1373C>A |
Protein | p.S458* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |