VWF c.2880G>A ;(p.R960=)

Variant ID: 12-6138595-C-T

NM_000552.3(VWF):c.2880G>A;(p.R960=)

This variant was identified in 17 publications

View GRCh38 version.




Publications:


OpenCustomDB: Integration of Unannotated Open Reading Frames and Genetic Variants to Generate More Comprehensive Customized Protein Databases.

Journal Of Proteome Research
Guilloy, Noé N; Brunet, Marie A MA; Leblanc, Sébastien S; Jacques, Jean-François JF; Hardy, Marie-Pierre MP; Ehx, Grégory G; Lanoix, Joël J; Thibault, Pierre P; Perreault, Claude C; Roucou, Xavier X
Publication Date: 2023-03-24

Variant appearance in text: VWF: Arg960Arg
PubMed Link: 36961377
Variant Present in the following documents:
  • pr3c00054_si_002.xlsx, sheet 2
View BVdb publication page



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: VWF: R960R
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
View BVdb publication page



Role of ADAMTS13, VWF and F8 genes in deep vein thrombosis.

Plos One
Pagliari, Maria Teresa MT; Cairo, Andrea A; Boscarino, Marco M; Mancini, Ilaria I; Pappalardo, Emanuela E; Bucciarelli, Paolo P; Martinelli, Ida I; Rosendaal, Frits R FR; Peyvandi, Flora F
Publication Date: 2021

Variant appearance in text: VWF: R960R; rs1800380
PubMed Link: 34662354
Variant Present in the following documents:
  • pone.0258675.s001.pdf
View BVdb publication page



Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08

Variant appearance in text: VWF: 2880G>A; R960R; rs1800380
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Ex vivo Improvement of a von Willebrand Disease Type 2A Phenotype Using an Allele-Specific Small-Interfering RNA.

Thrombosis And Haemostasis
de Jong, Annika A; Dirven, Richard J RJ; Boender, Johan J; Atiq, Ferdows F; Anvar, Seyed Yahya SY; Leebeek, Frank W G FWG; van Vlijmen, Bart J M BJM; Eikenboom, Jeroen J
Publication Date: 2020-11

Variant appearance in text: rs1800380
PubMed Link: 32803740
Variant Present in the following documents:
  • Main text
  • 10-1055-s-0040-1715442.pdf
View BVdb publication page



Coagulation factor VIII: Relationship to cardiovascular disease risk and whole genome sequence and epigenome-wide analysis in African Americans.

Journal Of Thrombosis And Haemostasis : Jth
Raffield, Laura M LM; Lu, Ake T AT; Szeto, Mindy D MD; Little, Amarise A; Grinde, Kelsey E KE; Shaw, Jessica J; Auer, Paul L PL; Cushman, Mary M; Horvath, Steve S; Irvin, Marguerite R MR; Lange, Ethan M EM; Lange, Leslie A LA; Nickerson, Deborah A DA; Thornton, Timothy A TA; Wilson, James G JG; Wheeler, Marsha M MM; , ; Zakai, Neil A NA; Reiner, Alex P AP
Publication Date: 2020-06

Variant appearance in text: rs1800380
PubMed Link: 31985870
Variant Present in the following documents:
  • Main text
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: VWF: 2880G>A; Arg960=; rs1800380
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: VWF: R960R; rs1800380
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



The role of genetics in the pathogenesis and diagnosis of type 1 Von Willebrand disease.

Current Opinion In Hematology
Flood, Veronica H VH; Garcia, Jessica J; Haberichter, Sandra L SL
Publication Date: 2019-09

Variant appearance in text: VWF: 2880G>A
PubMed Link: 31261173
Variant Present in the following documents:
  • Main text
View BVdb publication page



Role of factor VIII-binding capacity of endogenous von Willebrand factor in the development of factor VIII inhibitors in patients with severe hemophilia A.

Haematologica
Repessé, Yohann Y; Costa, Catherine C; Palla, Roberta R; Moshai, Elika Farrokhi EF; Borel-Derlon, Annie A; D'Oiron, Roseline R; Rothschild, Chantal C; El-Beshlawy, Amal A; Elalfy, Mohsen M; Ramanan, Vijay V; Eshghi, Peyman P; Oldenburg, Johannes J; Pavlova, Anna A; Rosendaal, Frits R FR; Peyvandi, Flora F; Kaveri, Srinivas V SV; Lacroix-Desmazes, Sébastien S
Publication Date: 2019-08

Variant appearance in text: VWF: 2880G>A; Arg960Arg; rs1800380
PubMed Link: 30705098
Variant Present in the following documents:
  • Main text
View BVdb publication page



Unraveling the effect of silent, intronic and missense mutations on VWF splicing: contribution of next generation sequencing in the study of mRNA.

Haematologica
Borràs, Nina N; Orriols, Gerard G; Batlle, Javier J; Pérez-Rodríguez, Almudena A; Fidalgo, Teresa T; Martinho, Patricia P; López-Fernández, María Fernanda MF; Rodríguez-Trillo, Ángela Á; Lourés, Esther E; Parra, Rafael R; Altisent, Carme C; Cid, Ana Rosa AR; Bonanad, Santiago S; Cabrera, Noelia N; Moret, Andrés A; Mingot-Castellano, María Eva ME; Navarro, Nira N; Pérez-Montes, Rocío R; Marcellin, Sally S; Moreto, Ana A; Herrero, Sonia S; Soto, Inmaculada I; Fernández-Mosteirín, Núria N; Jiménez-Yuste, Víctor V; Alonso, Nieves N; de Andrés-Jacob, Aurora A; Fontanes, Emilia E; Campos, Rosa R; Paloma, María José MJ; Bermejo, Nuria N; Berrueco, Ruben R; Mateo, José J; Arribalzaga, Karmele K; Marco, Pascual P; Palomo, Ángeles Á; Quismondo, Nerea Castro NC; Iñigo, Belén B; Nieto, María Del Mar MDM; Vidal, Rosa R; Martínez, María Paz MP; Aguinaco, Reyes R; Tenorio, Jesús María JM; Ferreiro, María M; García-Frade, Javier J; Rodríguez-Huerta, Ana María AM; Cuesta, Jorge J; Rodríguez-González, Ramón R; García-Candel, Faustino F; Dobón, Manuela M; Aguilar, Carlos C; Vidal, Francisco F; Corrales, Irene I
Publication Date: 2019-03

Variant appearance in text: rs1800380
PubMed Link: 30361419
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common VWF sequence variants associated with higher VWF and FVIII are less frequent in subjects diagnosed with type 1 VWD.

Research And Practice In Thrombosis And Haemostasis
Flood, Veronica H VH; Johnsen, Jill M JM; Kochelek, Caroline C; Slobodianuk, Tricia L TL; Christopherson, Pamela A PA; Haberichter, Sandra L SL; Udani, Rupa R; Bellissimo, Daniel B DB; Friedman, Kenneth D KD; Montgomery, Robert R RR
Publication Date: 2018-04

Variant appearance in text: VWF: 2880G>A; Arg960=; rs1800380
PubMed Link: 30046743
Variant Present in the following documents:
  • Main text
  • RTH2-2-390.pdf
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: VWF: R960R; rs1800380
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 4
View BVdb publication page



Gene-centric approach identifies new and known loci for FVIII activity and VWF antigen levels in European Americans and African Americans.

American Journal Of Hematology
Tang, Weihong W; Cushman, Mary M; Green, David D; Rich, Stephen S SS; Lange, Leslie A LA; Yang, Qiong Q; Tracy, Russell P RP; Tofler, Geoffrey H GH; Basu, Saonli S; Wilson, James G JG; Keating, Brendan J BJ; Weng, Lu-Chen LC; Taylor, Herman A HA; Jacobs, David R DR; Delaney, Joseph A JA; Palmer, Cameron D CD; Young, Taylor T; Pankow, James S JS; O'Donnell, Christopher J CJ; Smith, Nicholas L NL; Reiner, Alexander P AP; Folsom, Aaron R AR
Publication Date: 2015-06

Variant appearance in text: rs1800380
PubMed Link: 25779970
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: VWF: R960R; rs1800380
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Genetic heterogeneity in a large cohort of Indian type 3 von Willebrand disease patients.

Plos One
Kasatkar, Priyanka P; Shetty, Shrimati S; Ghosh, Kanjaksha K
Publication Date: 2014

Variant appearance in text: VWF: 2880G>A
PubMed Link: 24675615
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic determinants of plasma von Willebrand factor antigen levels: a target gene SNP and haplotype analysis of ARIC cohort.

Blood
Campos, Marco M; Sun, Wei W; Yu, Fuli F; Barbalic, Maja M; Tang, Weihong W; Chambless, Lloyd E LE; Wu, Kenneth K KK; Ballantyne, Christie C; Folsom, Aaron R AR; Boerwinkle, Eric E; Dong, Jing-Fei JF
Publication Date: 2011-05-12

Variant appearance in text: rs1800380
PubMed Link: 21343614
Variant Present in the following documents:
  • Main text
View BVdb publication page