VWF c.2879G>C ;(p.R960P)

Variant ID: 12-6138596-C-G

NM_000552.3(VWF):c.2879G>C;(p.R960P)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


A transcriptome analysis of basal and stimulated VWF release from endothelial cells derived from type 1 VWD patients.

Blood Advances
Kloosterman, Robbie R; Zago-Schmitt, Matteo M; Grabell, Julie J; Thibeault, Lisa Ann LA; Lima, Patricia D A PDA; Bowman, Mackenzie L ML; Tyryshkin, Kathrin K; Hindmarch, Charles C T CCT; Renwick, Neil N; James, Paula D PD
Publication Date: 2022-09-19

Variant appearance in text: VWF: 2879G>C; Arg960Pro
PubMed Link: 36121439
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Brain somatic mutations observed in Alzheimer's disease associated with aging and dysregulation of tau phosphorylation.

Nature Communications
Park, Jun Sung JS; Lee, Junehawk J; Jung, Eun Sun ES; Kim, Myeong-Heui MH; Kim, Il Bin IB; Son, Hyeonju H; Kim, Sangwoo S; Kim, Sanghyeon S; Park, Young Mok YM; Mook-Jung, Inhee I; Yu, Seok Jong SJ; Lee, Jeong Ho JH
Publication Date: 2019-07-12

Variant appearance in text: VWF: R960P
PubMed Link: 31300647
Variant Present in the following documents:
  • 41467_2019_11000_MOESM16_ESM.xlsx, sheet 1
View BVdb publication page



Frequency and signature of somatic variants in 1461 human brain exomes.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Wei, Wei W; Keogh, Michael J MJ; Aryaman, Juvid J; Golder, Zoe Z; Kullar, Peter J PJ; Wilson, Ian I; Talbot, Kevin K; Turner, Martin R MR; McKenzie, Chris-Anne CA; Troakes, Claire C; Attems, Johannes J; Smith, Colin C; Sarraj, Safa Al SA; Morris, Chris M CM; Ansorge, Olaf O; Jones, Nick S NS; Ironside, James W JW; Chinnery, Patrick F PF
Publication Date: 2019-04

Variant appearance in text: VWF: R960P
PubMed Link: 30214067
Variant Present in the following documents:
  • Main text
  • 41436_2018_Article_274.pdf
View BVdb publication page



Pharmacokinetics and safety of a novel recombinant human von Willebrand factor manufactured with a plasma-free method: a prospective clinical trial.

Blood
Mannucci, Pier Mannuccio PM; Kempton, Christine C; Millar, Carolyn C; Romond, Edward E; Shapiro, Amy A; Birschmann, Ingvild I; Ragni, Margaret V MV; Gill, Joan Cox JC; Yee, Thynn Thynn TT; Klamroth, Robert R; Wong, Wing-Yen WY; Chapman, Miranda M; Engl, Werner W; Turecek, Peter L PL; Suiter, Tobias M TM; Ewenstein, Bruce M BM; ,
Publication Date: 2013-08-01

Variant appearance in text: VWF: 2879G>C; R960P
PubMed Link: 23777763
Variant Present in the following documents:
  • Main text
View BVdb publication page