VWF c.4183_4184delinsGC ;(p.R1395A)

Variant ID: 12-6128400-CG-GC

NM_000552.3(VWF):c.4183_4184delinsGC;(p.R1395A)

This variant was identified in 6 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: R1395A
PubMed Link: 34136746
Variant Present in the following documents:
  • Main text
  • RTH2-5-e12534.pdf
View BVdb publication page



Novel aptamer to von Willebrand factor A1 domain (TAGX-0004) shows total inhibition of thrombus formation superior to ARC1779 and comparable to caplacizumab.

Haematologica
Sakai, Kazuya K; Someya, Tatsuhiko T; Harada, Kaori K; Yagi, Hideo H; Matsui, Taei T; Matsumoto, Masanori M
Publication Date: 2020-11-01

Variant appearance in text: VWF: R1395A
PubMed Link: 33131252
Variant Present in the following documents:
  • Main text
  • 1052631.pdf
View BVdb publication page



DNA binds to a specific site of the adhesive blood-protein von Willebrand factor guided by electrostatic interactions.

Nucleic Acids Research
Sandoval-Pérez, Angélica A; Berger, Ricarda M L RML; Garaizar, Adiran A; Farr, Stephen E SE; Brehm, Maria A MA; König, Gesa G; Schneider, Stefan W SW; Collepardo-Guevara, Rosana R; Huck, Volker V; Rädler, Joachim O JO; Aponte-Santamaría, Camilo C
Publication Date: 2020-07-27

Variant appearance in text: VWF: R1395A
PubMed Link: 32496552
Variant Present in the following documents:
  • Main text
  • gkaa466.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: R1395A
PubMed Link: 31935285
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of amino acid residues responsible for von Willebrand factor binding to sulfatide by charged-to-alanine-scanning mutagenesis.

International Journal Of Hematology
Nakayama, Takayuki T; Matsushita, Tadashi T; Yamamoto, Koji K; Mutsuga, Noriko N; Kojima, Tetsuhito T; Katsumi, Akira A; Nakao, Norihiko N; Sadler, J Evan JE; Naoe, Tomoki T; Saito, Hidehiko H
Publication Date: 2008-05

Variant appearance in text: VWF: R1395A
PubMed Link: 18369690
Variant Present in the following documents:
  • Main text
  • 12185_2008_Article_65.pdf
View BVdb publication page