PMID: 21059944

Structure-based development of a receptor activator of nuclear factor-kappaB ligand (RANKL) inhibitor peptide and molecular basis for osteopetrosis.

Proceedings of the National Academy of Sciences of the United States of America
HM Ta, GT Nguyen, HM Jin, J Choi, H Park, N Kim, HY Hwang, KK Kim

10 variants were identified in this publication

Variant ID Gene cDNA Protein Consequence Exon Intron
17-72537810-A-T CD300C c.593T>A p.Met198Lys Missense 4/4 -
18-60021725-C-T TNFRSF11A c.385C>T p.Arg129Cys Missense 4/9 -
13-43148599-G-A TNFSF11 c.160G>A p.Gly54Arg Missense 1/5 -
13-43148599-G-C TNFSF11 c.160G>C p.Gly54Arg Missense 1/5 -
18-60021719-TG-GC TNFRSF11A c.379_380delTGinsGC p.Cys127Ala Missense 4/9 -
18-60027189-T-C TNFRSF11A c.523T>C p.Cys175Arg Missense 6/9 -
18-60025561-A-G TNFRSF11A c.508A>G p.Arg170Gly Missense 5/9 -
17-72540771-T-G CD300C c.377A>C p.Glu126Ala Missense 2/4 -
13-43180696-T-A TNFSF11 c.596T>A p.Met199Lys Missense 5/5 -
18-60015482-G-C TNFRSF11A c.157G>C p.Gly53Arg Missense 2/9 -