TNFRSF11A c.523T>C ;(p.C175R)

Variant ID: 18-60027189-T-C

NM_003839.3(TNFRSF11A):c.523T>C;(p.C175R)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: TNFRSF11A: 523T>C; Cys175Arg
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Genome Medicine
Wang, Zishan Z; Fan, Xiao X; Shen, Yufeng Y; Pagadala, Meghana S MS; Signer, Rebecca R; Cygan, Kamil J KJ; Fairbrother, William G WG; Carter, Hannah H; Chung, Wendy K WK; Huang, Kuan-Lin KL
Publication Date: 2021-09-09

Variant appearance in text: TNFRSF11A: C175R
PubMed Link: 34503567
Variant Present in the following documents:
  • 13073_2021_964_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances
Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X
Publication Date: 2020-07

Variant appearance in text: TNFRSF11A: 523T>C; Cys175Arg
PubMed Link: 32832622
Variant Present in the following documents:
  • aba1773_Data_file_S1.xlsx, sheet 2
View BVdb publication page



RANKL biology: bone metabolism, the immune system, and beyond.

Inflammation And Regeneration
Ono, Takehito T; Hayashi, Mikihito M; Sasaki, Fumiyuki F; Nakashima, Tomoki T
Publication Date: 2020

Variant appearance in text: TNFRSF11A: 523T>C
PubMed Link: 32047573
Variant Present in the following documents:
  • Main text
  • 41232_2019_Article_111.pdf
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: TNFRSF11A: C175R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



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

Journal Of Bone And Mineral Research : The Official Journal Of The American Society For Bone And Mineral Research
Pangrazio, Alessandra A; Cassani, Barbara B; Guerrini, Matteo M MM; Crockett, Julie C JC; Marrella, Veronica V; Zammataro, Luca L; Strina, Dario D; Schulz, Ansgar A; Schlack, Claire C; Kornak, Uwe U; Mellis, David J DJ; Duthie, Angela A; Helfrich, Miep H MH; Durandy, Anne A; Moshous, Despina D; Vellodi, Ashok A; Chiesa, Robert R; Veys, Paul P; Lo Iacono, Nadia N; Vezzoni, Paolo P; Fischer, Alain A; Villa, Anna A; Sobacchi, Cristina C
Publication Date: 2012-02

Variant appearance in text: RANK: Cys175Arg
PubMed Link: 22271396
Variant Present in the following documents:
  • Main text
  • jbmr0027-0342.pdf
View BVdb publication page



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
Ta, Hai Minh HM; Nguyen, Giang Thi Tuyet GT; Jin, Hye Mi HM; Choi, Jongkeun J; Park, Hyejin H; Kim, Nacksung N; Hwang, Hye-Yeon HY; Kim, Kyeong Kyu KK
Publication Date: 2010-11-23

Variant appearance in text: RANK: C175R
PubMed Link: 21059944
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

American Journal Of Human Genetics
Guerrini, Matteo M MM; Sobacchi, Cristina C; Cassani, Barbara B; Abinun, Mario M; Kilic, Sara S SS; Pangrazio, Alessandra A; Moratto, Daniele D; Mazzolari, Evelina E; Clayton-Smith, Jill J; Orchard, Paul P; Coxon, Fraser P FP; Helfrich, Miep H MH; Crockett, Julie C JC; Mellis, David D; Vellodi, Ashok A; Tezcan, Ilhan I; Notarangelo, Luigi D LD; Rogers, Michael J MJ; Vezzoni, Paolo P; Villa, Anna A; Frattini, Annalisa A
Publication Date: 2008-07

Variant appearance in text:
PubMed Link: 18606301
Variant Present in the following documents:
  • Main text
View BVdb publication page