CD58 c.628+2040C>A

Variant ID: 1-117076547-G-T

NM_001779.2(CD58):c.628+2040C>A

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Novel loss-of-function mutations in TNFAIP3 gene in patients with lupus nephritis.

Clinical Kidney Journal
Zhang, Changming C; Han, Xu X; Sun, Li L; Yang, Sirui S; Peng, Jiahui J; Chen, Yinghua Y; Jin, Ying Y; Xu, Feng F; Liu, Zhihong Z; Zhou, Qing Q
Publication Date: 2022-11

Variant appearance in text: rs1016140
PubMed Link: 36325013
Variant Present in the following documents:
  • Main text
  • sfac130.pdf
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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: rs1016140
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
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A Comprehensive Review on the Role of Genetic Factors in Neuromyelitis Optica Spectrum Disorder.

Frontiers In Immunology
Ghafouri-Fard, Soudeh S; Azimi, Tahereh T; Taheri, Mohammad M
Publication Date: 2021

Variant appearance in text: rs1016140
PubMed Link: 34675927
Variant Present in the following documents:
  • Main text
  • fimmu-12-737673.pdf
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CD58 Immunobiology at a Glance.

Frontiers In Immunology
Zhang, Yalu Y; Liu, Qiaofei Q; Yang, Sen S; Liao, Quan Q
Publication Date: 2021

Variant appearance in text: rs1016140
PubMed Link: 34168659
Variant Present in the following documents:
  • Main text
  • fimmu-12-705260.pdf
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Identification of 38 novel loci for systemic lupus erythematosus and genetic heterogeneity between ancestral groups.

Nature Communications
Wang, Yong-Fei YF; Zhang, Yan Y; Lin, Zhiming Z; Zhang, Huoru H; Wang, Ting-You TY; Cao, Yujie Y; Morris, David L DL; Sheng, Yujun Y; Yin, Xianyong X; Zhong, Shi-Long SL; Gu, Xiaoqiong X; Lei, Yao Y; He, Jing J; Wu, Qi Q; Shen, Jiangshan Jane JJ; Yang, Jing J; Lam, Tai-Hing TH; Lin, Jia-Huang JH; Mai, Zhi-Ming ZM; Guo, Mengbiao M; Tang, Yuanjia Y; Chen, Yanhui Y; Song, Qin Q; Ban, Bo B; Mok, Chi Chiu CC; Cui, Yong Y; Lu, Liangjing L; Shen, Nan N; Sham, Pak C PC; Lau, Chak Sing CS; Smith, David K DK; Vyse, Timothy J TJ; Zhang, Xuejun X; Lau, Yu Lung YL; Yang, Wanling W
Publication Date: 2021-02-03

Variant appearance in text: rs1016140
PubMed Link: 33536424
Variant Present in the following documents:
  • Main text
  • 41467_2021_Article_21049.pdf
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Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight
Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL
Publication Date: 2020-09-03

Variant appearance in text: rs1016140
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



Association of Optic Neuritis with CYP4F2 Gene Single Nucleotide Polymorphism and IL-17A Concentration.

Journal Of Ophthalmology
Banevicius, Mantas M; Vilkeviciute, Alvita A; Glebauskiene, Brigita B; Kriauciuniene, Loresa L; Liutkeviciene, Rasa R
Publication Date: 2018

Variant appearance in text: rs1016140
PubMed Link: 29736281
Variant Present in the following documents:
  • Main text
  • JOPH2018-1686297.pdf
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A genome-wide association study identifies six novel risk loci for primary biliary cholangitis.

Nature Communications
Qiu, Fang F; Tang, Ruqi R; Zuo, Xianbo X; Shi, Xingjuan X; Wei, Yiran Y; Zheng, Xiaodong X; Dai, Yaping Y; Gong, Yuhua Y; Wang, Lan L; Xu, Ping P; Zhu, Xiang X; Wu, Jian J; Han, Chongxu C; Gao, Yueqiu Y; Zhang, Kui K; Jiang, Yuzhang Y; Zhou, Jianbo J; Shao, Youlin Y; Hu, Zhigang Z; Tian, Ye Y; Zhang, Haiyan H; Dai, Na N; Liu, Lei L; Wu, Xudong X; Zhao, Weifeng W; Zhang, Xiaomin X; Zang, Zhidong Z; Nie, Jinshan J; Sun, Weihao W; Zhao, Yi Y; Mao, Yuan Y; Jiang, Po P; Ji, Hualiang H; Dong, Qing Q; Li, Junming J; Li, Zhenzhong Z; Bai, Xinli X; Li, Li L; Lin, Maosong M; Dong, Ming M; Li, Jinxin J; Zhu, Ping P; Wang, Chan C; Zhang, Yanqiu Y; Jiang, Peng P; Wang, Yujue Y; Jawed, Rohil R; Xu, Jing J; Zhang, Yu Y; Wang, Qixia Q; Yang, Yue Y; Yang, Fan F; Lian, Min M; Jiang, Xiang X; Xiao, Xiao X; Li, Yanmei Y; Fang, Jingyuan J; Qiu, Dekai D; Zhu, Zhen Z; Qiu, Hong H; Zhang, Jianqiong J; Tian, Wenyan W; Chen, Sufang S; Jiang, Ling L; Ji, Bing B; Li, Ping P; Chen, Guochang G; Wu, Tianxue T; Sun, Yan Y; Yu, Jianjiang J; Tang, Huijun H; He, Michun M; Xia, Min M; Pei, Hao H; Huang, Lihua L; Qing, Zhuye Z; Wu, Jianfang J; Huang, Qinghai Q; Han, Junhai J; Xie, Wei W; Sun, Zhongsheng Z; Guo, Jian J; He, Gengsheng G; Eric Gershwin, M M; Lian, Zhexiong Z; Liu, Xiang X; Seldin, Michael F MF; Liu, Xiangdong X; Chen, Weichang W; Ma, Xiong X
Publication Date: 2017-04-20

Variant appearance in text: rs1016140
PubMed Link: 28425483
Variant Present in the following documents:
  • ncomms14828-s1.pdf
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CD58 polymorphisms associated with the risk of neuromyelitis optica in a Korean population.

Bmc Neurology
Kim, Jason Yongha JY; Bae, Joon Seol JS; Kim, Ho Jin HJ; Shin, Hyoung Doo HD
Publication Date: 2014-03-24

Variant appearance in text: rs1016140
PubMed Link: 24655566
Variant Present in the following documents:
  • Main text
  • 1471-2377-14-57.pdf
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Host genetic factors and vaccine-induced immunity to HBV infection: haplotype analysis.

Plos One
Ryckman, Kelli K KK; Fielding, Katherine K; Hill, Adrian V AV; Mendy, Maimuna M; Rayco-Solon, Pura P; Sirugo, Giorgio G; van der Sande, Marianne A MA; Waight, Pauline P; Whittle, Hilton C HC; Hall, Andrew J AJ; Williams, Scott M SM; Hennig, Branwen J BJ
Publication Date: 2010-08-18

Variant appearance in text: rs1016140
PubMed Link: 20806065
Variant Present in the following documents:
  • Main text
  • pone.0012273.pdf
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Host genetic factors and vaccine-induced immunity to hepatitis B virus infection.

Plos One
Hennig, Branwen J BJ; Fielding, Katherine K; Broxholme, John J; Diatta, Mathurin M; Mendy, Maimuna M; Moore, Catrin C; Pollard, Andrew J AJ; Rayco-Solon, Pura P; Sirugo, Giorgio G; van der Sande, Marianne A MA; Waight, Pauline P; Whittle, Hilton C HC; Zaman, Syed M SM; Hill, Adrian V AV; Hall, Andrew J AJ
Publication Date: 2008-03-26

Variant appearance in text: rs1016140
PubMed Link: 18365030
Variant Present in the following documents:
  • Main text
  • pone.0001898.pdf
View BVdb publication page