[Term]
id: PR:000063373
name: transcriptional regulator ATRX sequence variant L253* (human)
def: "A transcriptional regulator ATRX (human) that has has been truncated after the position equivalent to Glu-252 of the amino acid sequence represented by UniProtKB:P46100-1. Example: UniProtKB:P46100-1, 1-252." [PRO:DNx, Reactome:R-HSA-9671688]
comment: Category=organism-sequence.
synonym: "hATRX/var:L253*" EXACT PRO-short-label [PRO:DNx]
synonym: "ATRX L253*" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-9671688]
synonym: "UniProtKB:P46100, 1-252" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P46100-1, 1-252" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-9671688 "PR:000063373 located_in GO:0005654"
is_a: PR:P46100 ! transcriptional regulator ATRX (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens