[Term] id: PR:000064036 name: transcriptional regulator ATRX sequence variant E482* (human) def: "A transcriptional regulator ATRX (human) that has has been truncated after the position equivalent to Glu-481 of the amino acid sequence represented by UniProtKB:P46100-1. Example: UniProtKB:P46100-1, 1-481." [PRO:DNx, Reactome:R-HSA-9670959] comment: Category=organism-sequence. synonym: "hATRX/var:E482*" EXACT PRO-short-label [PRO:DNx] synonym: "ATRX E482*" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-9670959] synonym: "UniProtKB:P46100, 1-481" EXACT PRO-proteoform-std [PRO:DNx] synonym: "UniProtKB:P46100-1, 1-481" NARROW PRO-proteoform-std [PRO:DNx] xref: Reactome:R-HSA-9670959 "PR:000064036 located_in GO:0005654" is_a: PR:P46100 ! transcriptional regulator ATRX (human) relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens