VWF c.7527C>A ;(p.D2509E)

Variant ID: 12-6080786-G-T

NM_000552.3(VWF):c.7527C>A;(p.D2509E)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Fibronectin binding to von Willebrand factor occurs via the A1 domain.

Research And Practice In Thrombosis And Haemostasis
Keesler, Daniel A DA; Slobodianuk, Tricia L TL; Kochelek, Caroline E CE; Skaer, Chad W CW; Haberichter, Sandra L SL; Flood, Veronica H VH
Publication Date: 2021-06

Variant appearance in text: VWF: D2509E
PubMed Link: 34136746
Variant Present in the following documents:
  • Main text
  • RTH2-5-e12534.pdf
View BVdb publication page



Gain-of-Function Variant p.Pro2555Arg of von Willebrand Factor Increases Aggregate Size through Altering Stem Dynamics.

Thrombosis And Haemostasis
Huck, Volker V; Chen, Po-Chia PC; Xu, Emma-Ruoqi ER; Tischer, Alexander A; Klemm, Ulrike U; Aponte-Santamaría, Camilo C; Mess, Christian C; Obser, Tobias T; Kutzki, Fabian F; König, Gesa G; Denis, Cécile V CV; Gräter, Frauke F; Wilmanns, Matthias M; Auton, Matthew M; Schneider, Stefan W SW; Schneppenheim, Reinhard R; Hennig, Janosch J; Brehm, Maria A MA
Publication Date: 2020-12-31

Variant appearance in text: VWF: Asp2509Glu
PubMed Link: 33385180
Variant Present in the following documents:
  • Main text
  • 10-1055-a-1344-4405.pdf
  • 10-1055-a-1344-4405-s200635.pdf
View BVdb publication page



Gain-of-Function Variant p.Pro2555Arg of von Willebrand Factor Increases Aggregate Size through Altering Stem Dynamics.

Thrombosis And Haemostasis
Huck, Volker V; Chen, Po-Chia PC; Xu, Emma-Ruoqi ER; Tischer, Alexander A; Klemm, Ulrike U; Aponte-Santamaría, Camilo C; Mess, Christian C; Obser, Tobias T; Kutzki, Fabian F; König, Gesa G; Denis, Cécile V CV; Gräter, Frauke F; Wilmanns, Matthias M; Auton, Matthew M; Schneider, Stefan W SW; Schneppenheim, Reinhard R; Hennig, Janosch J; Brehm, Maria A MA
Publication Date: 2022-02

Variant appearance in text: VWF: Asp2509Glu
PubMed Link: 33385180
Variant Present in the following documents:
  • Main text
  • 10-1055-a-1344-4405.pdf
  • 10-1055-a-1344-4405-s200635.pdf
View BVdb publication page



von Willebrand factor binding to myosin assists in coagulation.

Blood Advances
Flood, Veronica H VH; Slobodianuk, Tricia L TL; Keesler, Daniel D; Lohmeier, Hannah K HK; Fahs, Scot S; Zhang, Liyun L; Simpson, Pippa P; Montgomery, Robert R RR
Publication Date: 2020-01-14

Variant appearance in text: VWF: D2509E
PubMed Link: 31935285
Variant Present in the following documents:
  • Main text
View BVdb publication page



The von Willebrand factor Tyr2561 allele is a gain-of-function variant and a risk factor for early myocardial infarction.

Blood
Schneppenheim, Reinhard R; Hellermann, Natalie N; Brehm, Maria A MA; Klemm, Ulrike U; Obser, Tobias T; Huck, Volker V; Schneider, Stefan W SW; Denis, Cécile V CV; Tischer, Alexander A; Auton, Matthew M; März, Winfried W; Xu, Emma-Ruoqi ER; Wilmanns, Matthias M; Zotz, Rainer B RB
Publication Date: 2019-01-24

Variant appearance in text: VWF: Asp2509Glu
PubMed Link: 30366922
Variant Present in the following documents:
  • Main text
View BVdb publication page