[Term]
id: PR:000063078
name: BRCA1-associated RING domain protein 1 sequence variant G623E (human)
def: "A BRCA1-associated RING domain protein 1 (human) that has a Glu residue at the position equivalent to Gly-623 of the amino acid sequence represented by UniProtKB:Q99728-1. Example: UniProtKB:Q99728-1, Gly-623, CHEBI:29972." [PRO:DNx, Reactome:R-HSA-9699135]
comment: Category=organism-sequence.
synonym: "hBARD1/var:G623E" EXACT PRO-short-label [PRO:DNx]
synonym: "BARD1 G623E" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-9699135]
synonym: "UniProtKB:Q99728, Gly-623, CHEBI:29972" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:Q99728-1, Gly-623, CHEBI:29972" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-9699135 "PR:000063078 located_in GO:0005654"
is_a: PR:Q99728 ! BRCA1-associated RING domain protein 1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens