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VWF c.5509C>T ;(p.R1837W)
Variant ID: 12-6122758-G-A
NM_000552.3(
VWF
):c.5509C>T;(p.R1837W)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09
Variant appearance in text: VWF: 5509C>T; Arg1837Trp
PubMed Link:
32355288
Variant Present in the following documents:
41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page
Genetic Variation in the von Willebrand Factor Gene in Swedish von Willebrand Disease Patients.
Th Open : Companion Journal To Thrombosis And Haemostasis
Manderstedt, Eric E; Lind-Halldén, Christina C; Lethagen, Stefan S; Halldén, Christer C
Publication Date: 2018-01
Variant appearance in text: VWF: 5509C>T; R1837W
PubMed Link:
31249928
Variant Present in the following documents:
Main text
10-1055-s-0037-1618571.pdf
View BVdb publication page
Functional consequences of somatic mutations in cancer using protein pocket-based prioritization approach.
Genome Medicine
Vuong, Huy H; Cheng, Feixiong F; Lin, Chen-Ching CC; Zhao, Zhongming Z
Publication Date: 2014
Variant appearance in text: VWF: R1837W
PubMed Link:
25360158
Variant Present in the following documents:
13073_2014_81_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page