Variant ID: 13-43180696-T-A


This variant was identified in 4 publications


RANKL cytokine: from pioneer of the osteoimmunology era to cure for a rare disease.

Clinical & Developmental Immunology
N Lo Iacono, A Pangrazio, M Abinun, R Bredius, M Zecca, HC Blair, P Vezzoni, A Villa, C Sobacchi
Publication Date: 2013

Variant appearance in text: RANKL: 596T>A
PMID: 23762088
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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
Publication Date: 2010-11-23

Variant appearance in text: RANKL: M199K
PMID: 21059944
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Genome-wide significant associations for variants with minor allele frequency of 5% or less--an overview: A HuGE review.

American Journal Of Epidemiology
OA Panagiotou, E Evangelou, JP Ioannidis
Publication Date: 2010-10-15

Variant appearance in text: TNFSF11: Met199Lys
PMID: 20876667
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Mutations within the TNF-like core domain of RANKL impair osteoclast differentiation and activation.

Molecular Endocrinology (Baltimore, Md.)
T Cheng, NJ Pavlos, C Wang, JW Tan, JM Lin, J Cornish, MH Zheng, J Xu
Publication Date: 2009-01

Variant appearance in text: RANKL: M199K
PMID: 19008464
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Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000239849.6 c.596T>A p.Met199Lys missense_variant 5/5 -
ENST00000358545.2 c.377T>A p.Met126Lys missense_variant 7/7 -
ENST00000398795.2 c.377T>A p.Met126Lys missense_variant 5/5 -
ENST00000405262.2 c.377T>A p.Met126Lys missense_variant 6/6 -
ENST00000544862.1 c.377T>A p.Met126Lys missense_variant 6/6 -
NM_003701.4 c.596T>A p.Met199Lys missense_variant 5/5 -
NM_033012.3 c.377T>A p.Met126Lys missense_variant 7/7 -