VWF c.2345G>A ;(p.R782Q)

Variant ID: 12-6153554-C-T

NM_000552.3(VWF):c.2345G>A;(p.R782Q)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: R782Q; rs61748472
PubMed Link: 34662354
Variant Present in the following documents:
  • pone.0258675.s002.pdf
View BVdb publication page



Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: VWF: R782Q
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Mutations in the D'D3 region of VWF traditionally associated with type 1 VWD lead to quantitative and qualitative deficiencies of VWF.

Thrombosis Research
White-Adams, Tara C TC; Ng, Christopher J CJ; Jacobi, Paula M PM; Haberichter, Sandra L SL; Di Paola, Jorge A JA
Publication Date: 2016-09

Variant appearance in text: VWF: 2345G>A; R782Q
PubMed Link: 27533707
Variant Present in the following documents:
  • Main text
View BVdb publication page