VWF c.6353G>A ;(p.R2118Q)

Variant ID: 12-6103273-C-T

NM_000552.3(VWF):c.6353G>A;(p.R2118Q)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Early severe coronary heart disease and ischemic heart failure in homozygous familial hypercholesterolemia: A case report.

Medicine
Kuang, Hongyu H; Zhou, Xue X; Li, Li L; Yi, Qijian Q; Shou, Weinian W; Lu, Tiewei T
Publication Date: 2018-10

Variant appearance in text: rs375779188
PubMed Link: 30335000
Variant Present in the following documents:
  • Main text
  • medi-97-e12869.pdf
View BVdb publication page



Comprehensive genomic analysis of Oesophageal Squamous Cell Carcinoma reveals clinical relevance.

Scientific Reports
Du, Peina P; Huang, Peide P; Huang, Xuanlin X; Li, Xiangchun X; Feng, Zhimin Z; Li, Fengyu F; Liang, Shaoguang S; Song, Yongmei Y; Stenvang, Jan J; BrĂ¼nner, Nils N; Yang, Huanming H; Ou, Yunwei Y; Gao, Qiang Q; Li, Lin L
Publication Date: 2017-11-10

Variant appearance in text: VWF: 6353G>A; R2118Q
PubMed Link: 29127303
Variant Present in the following documents:
  • 41598_2017_14909_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Genomic analyses reveal FAM84B and the NOTCH pathway are associated with the progression of esophageal squamous cell carcinoma.

Gigascience
Cheng, Caixia C; Cui, Heyang H; Zhang, Ling L; Jia, Zhiwu Z; Song, Bin B; Wang, Fang F; Li, Yaoping Y; Liu, Jing J; Kong, Pengzhou P; Shi, Ruyi R; Bi, Yanghui Y; Yang, Bin B; Wang, Juan J; Zhao, Zhenxiang Z; Zhang, Yanyan Y; Hu, Xiaoling X; Yang, Jie J; He, Chanting C; Zhao, Zhiping Z; Wang, Jinfen J; Xi, Yanfeng Y; Xu, Enwei E; Li, Guodong G; Guo, Shiping S; Chen, Yunqing Y; Yang, Xiaofeng X; Chen, Xing X; Liang, Jianfang J; Guo, Jiansheng J; Cheng, Xiaolong X; Wang, Chuangui C; Zhan, Qimin Q; Cui, Yongping Y
Publication Date: 2016

Variant appearance in text: VWF: 6353G>A; R2118Q
PubMed Link: 26759717
Variant Present in the following documents:
  • 13742_2015_107_MOESM11_ESM.xlsx, sheet 1
View BVdb publication page



Genomic analyses reveal mutational signatures and frequently altered genes in esophageal squamous cell carcinoma.

American Journal Of Human Genetics
Zhang, Ling L; Zhou, Yong Y; Cheng, Caixia C; Cui, Heyang H; Cheng, Le L; Kong, Pengzhou P; Wang, Jiaqian J; Li, Yin Y; Chen, Wenliang W; Song, Bin B; Wang, Fang F; Jia, Zhiwu Z; Li, Lin L; Li, Yaoping Y; Yang, Bin B; Liu, Jing J; Shi, Ruyi R; Bi, Yanghui Y; Zhang, Yanyan Y; Wang, Juan J; Zhao, Zhenxiang Z; Hu, Xiaoling X; Yang, Jie J; Li, Hongyi H; Gao, Zhibo Z; Chen, Gang G; Huang, Xuanlin X; Yang, Xukui X; Wan, Shengqing S; Chen, Chao C; Li, Bin B; Tan, Yongkai Y; Chen, Longyun L; He, Minghui M; Xie, Sha S; Li, Xiangchun X; Zhuang, Xuehan X; Wang, Mengyao M; Xia, Zhi Z; Luo, Longhai L; Ma, Jie J; Dong, Bing B; Zhao, Jiuzhou J; Song, Yongmei Y; Ou, Yunwei Y; Li, Enming E; Xu, Liyan L; Wang, Jinfen J; Xi, Yanfeng Y; Li, Guodong G; Xu, Enwei E; Liang, Jianfang J; Yang, Xiaofeng X; Guo, Jiansheng J; Chen, Xing X; Zhang, Yanbo Y; Li, Qingshan Q; Liu, Lixin L; Li, Yingrui Y; Zhang, Xiuqing X; Yang, Huanming H; Lin, Dongxin D; Cheng, Xiaolong X; Guo, Yongjun Y; Wang, Jun J; Zhan, Qimin Q; Cui, Yongping Y
Publication Date: 2015-04-02

Variant appearance in text: VWF: 6353G>A; R2118Q
PubMed Link: 25839328
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page