[Term] id: PR:000061534 name: transcriptional regulator ATRX sequence variant L513* (human) def: "A transcriptional regulator ATRX (human) that has has been truncated after the position equivalent to Asp-512 of the amino acid sequence represented by UniProtKB:P46100-1. Example: UniProtKB:P46100-1, 1-512." [PRO:DNx, Reactome:R-HSA-9671690] comment: Category=organism-sequence. synonym: "hATRX/var:L513*" EXACT PRO-short-label [PRO:DNx] synonym: "ATRX L513*" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-9671690] synonym: "UniProtKB:P46100, 1-512" EXACT PRO-proteoform-std [PRO:DNx] synonym: "UniProtKB:P46100-1, 1-512" NARROW PRO-proteoform-std [PRO:DNx] xref: Reactome:R-HSA-9671690 "PR:000061534 located_in GO:0005654" is_a: PR:P46100 ! transcriptional regulator ATRX (human) relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens