[Term]
id: PR:000000278
name: tumor necrosis factor ligand superfamily member 6 isoform FasL sequence variant F273L
def: "A tumor necrosis factor ligand superfamily member 6 isoform FasL that has a Leu residue at the position equivalent to Phe-273 of the amino acid sequence represented by UniProtKB:P41047-1. Example: UniProtKB:P41047-1, Phe-273, CHEBI:30006." [PMID:7495745, PRO:CNA, PRO:DAN]
comment: Category=sequence. Note: This variation leads to an immune system phenotype with enlarged lymph nodes (MP:0000702) and increased lymphocyte cell number (MP:0005013).
synonym: "gld" RELATED []
synonym: "FASLG/iso:FasL/var:F273L" EXACT PRO-short-label [PRO:DNx]
synonym: "tumor necrosis factor ligand superfamily member 6 isoform 1 sequence variant 1" EXACT [PRO:DNx]
synonym: "tumor necrosis factor ligand superfamily member 6 isoform FasL sequence variant 1" EXACT [PRO:DNx]
is_a: PR:000000276 ! tumor necrosis factor ligand superfamily member 6 isoform FasL