Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF11A
Variant:p.R170G
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TNFRSF11A

NM_003839.4:p.R170G

Associated Papers

The molecular spectrum of Turkish osteopetrosis and related osteoclast disorders with natural history, including a candidate gene, CCDC120.

Tüysüz B et al.

Bone, 2023

Genetic disorders associated with the RANKL/OPG/RANK pathway.

Xue JY et al.

Journal of Bone and Mineral Metabolism, 2021

Osteopetrosis: genetics, treatment and new insights into osteoclast function.

Sobacchi C et al.

Nature Reviews. Endocrinology, 2013

RANK-dependent autosomal recessive osteopetrosis: characterization of five new cases with novel mutations.

Pangrazio A et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2012

New knowledge on critical osteoclast formation and activation pathways from study of rare genetic diseases of osteoclasts: focus on the RANK/RANKL axis.

Crockett JC et al.

Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2011

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

Ta HM et al.

Proceedings of the National Academy of Sciences of the United States of America, 2010

Structural and functional insights of RANKL-RANK interaction and signaling.

Liu C et al.

Journal of Immunology (baltimore, Md. : 1950), 2010

Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations.

Guerrini MM et al.

American Journal of Human Genetics, 2008

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