VWF c.2936G>A ;(p.S979N)

Variant ID: 12-6138539-C-T

NM_000552.3(VWF):c.2936G>A;(p.S979N)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Structures of VWF tubules before and after concatemerization reveal a mechanism of disulfide bond exchange.

Blood
Anderson, Jacob R JR; Li, Jing J; Springer, Timothy A TA; Brown, Alan A
Publication Date: 2022-09-22

Variant appearance in text: VWF: S979N
PubMed Link: 35776905
Variant Present in the following documents:
  • bloodBLD2022016467-suppl1.pdf
  • 10.1182-2022016467_bloodbld2022016467-suppl1.pdf
View BVdb publication page



Importance of Genotyping in von Willebrand Disease to Elucidate Pathogenic Mechanisms and Variability in Phenotype.

Hemasphere
Atiq, Ferdows F; Boender, Johan J; van Heerde, Waander L WL; Tellez Garcia, Juan M JM; Schoormans, Selene C SC; Krouwel, Sandy S; Cnossen, Marjon H MH; Laros-van Gorkom, Britta A P BAP; de Meris, Joke J; Fijnvandraat, Karin K; van der Bom, Johanna G JG; Meijer, Karina K; van Galen, Karin P M KPM; Eikenboom, Jeroen J; Leebeek, Frank W G FWG
Publication Date: 2022-06

Variant appearance in text: VWF: S979N
PubMed Link: 35747851
Variant Present in the following documents:
  • Main text
  • hs9-6-e718.pdf
View BVdb publication page



Improving diagnosis of von Willebrand disease: Reference ranges for von Willebrand factor multimer distribution.

Research And Practice In Thrombosis And Haemostasis
Vangenechten, Inge I; Gadisseur, Alain A
Publication Date: 2020-08

Variant appearance in text: VWF: Ser979Asn
PubMed Link: 32864553
Variant Present in the following documents:
  • RTH2-4-1024-s004.xlsx, sheet 1
View BVdb publication page



The von Willebrand factor D'D3 assembly and structural principles for factor VIII binding and concatemer biogenesis.

Blood
Dong, Xianchi X; Leksa, Nina C NC; Chhabra, Ekta Seth ES; Arndt, Joseph W JW; Lu, Qi Q; Knockenhauer, Kevin E KE; Peters, Robert T RT; Springer, Timothy A TA
Publication Date: 2019-04-04

Variant appearance in text: VWF: S979N
PubMed Link: 30642920
Variant Present in the following documents:
  • Main text
View BVdb publication page