[Term]
id: PR:000049999
name: mast/stem cell growth factor receptor Kit sequence variant D816V (human)
def: "A mast/stem cell growth factor receptor Kit (human) that has a Val residue at the position equivalent to Asp-816 of the amino acid sequence represented by UniProtKB:P10721-1. Example: UniProtKB:P10721-1, Asp-816, CHEBI:30015." [PRO:DAN]
comment: Category=organism-sequence.
synonym: "hKIT/var:D816V" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P10721, Asp-816, CHEBI:30015" EXACT PRO-proteoform-std [PRO:DAN]
synonym: "UniProtKB:P10721-1, Asp-816, CHEBI:30015" NARROW PRO-proteoform-std [PRO:DAN]
xref: UniProtKB_VAR:VAR_004109
is_a: PR:P10721 ! mast/stem cell growth factor receptor Kit (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens