[Term]
id: PR:000064037
name: mast/stem cell growth factor receptor Kit sequence variant D816Y, signal peptide removed form (human)
def: "A mast/stem cell growth factor receptor Kit (human) that has a Tyr residue at the position equivalent to Asp-816 of the amino acid sequence represented by UniProtKB:P10721-1 and that has had the signal peptide removed. Example: UniProtKB:P10721-1, 26-976, Asp-816, CHEBI:46858." [PRO:DNx, Reactome:R-HSA-9669435]
comment: Category=organism-modification.
synonym: "hKIT/var:D816Y/SigPep-" EXACT PRO-short-label [PRO:DNx]
synonym: "KIT D816Y" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-9669435]
synonym: "UniProtKB:P10721, 26-976, Asp-816, CHEBI:46858" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P10721-1, 26-976, Asp-816, CHEBI:46858" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-9669435 "PR:000064037 located_in GO:0005886"
is_a: PR:P10721 ! mast/stem cell growth factor receptor Kit (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens