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

2010-11-23

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	-