VWF c.5356C>G ;(p.H1786D)

Variant ID: 12-6125354-G-C

NM_000552.3(VWF):c.5356C>G;(p.H1786D)

This variant was identified in 12 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: H1786D
PubMed Link: 34136746
Variant Present in the following documents:
  • Main text
  • RTH2-5-e12534.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: H1786D
PubMed Link: 31935285
Variant Present in the following documents:
  • Main text
View BVdb publication page



Current issues in diagnosis and treatment of von Willebrand disease.

Research And Practice In Thrombosis And Haemostasis
Keesler, Daniel A DA; Flood, Veronica H VH
Publication Date: 2018-01

Variant appearance in text: VWF: His1786Asp
PubMed Link: 30046704
Variant Present in the following documents:
  • Main text
  • RTH2-2-34.pdf
View BVdb publication page



Functional characterisation of the type 1 von Willebrand disease candidate VWF gene variants: p.M771I, p.L881R and p.P1413L.

Blood Transfusion = Trasfusione Del Sangue
Berber, Ergul E; Ozbil, Mehmet M; Brown, Christine C; Baslar, Zafer Z; Caglayan, S Hande SH; Lillicrap, David D
Publication Date: 2017-10

Variant appearance in text: VWF: H1786D
PubMed Link: 27483487
Variant Present in the following documents:
  • Main text
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Clinical and laboratory variability in a cohort of patients diagnosed with type 1 VWD in the United States.

Blood
Flood, Veronica H VH; Christopherson, Pamela A PA; Gill, Joan Cox JC; Friedman, Kenneth D KD; Haberichter, Sandra L SL; Bellissimo, Daniel B DB; Udani, Rupa A RA; Dasgupta, Mahua M; Hoffmann, Raymond G RG; Ragni, Margaret V MV; Shapiro, Amy D AD; Lusher, Jeanne M JM; Lentz, Steven R SR; Abshire, Thomas C TC; Leissinger, Cindy C; Hoots, W Keith WK; Manco-Johnson, Marilyn J MJ; Gruppo, Ralph A RA; Boggio, Lisa N LN; Montgomery, Kate T KT; Goodeve, Anne C AC; James, Paula D PD; Lillicrap, David D; Peake, Ian R IR; Montgomery, Robert R RR
Publication Date: 2016-05-19

Variant appearance in text: VWF: H1786D
PubMed Link: 26862110
Variant Present in the following documents:
  • Main text
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Crucial role for the VWF A1 domain in binding to type IV collagen.

Blood
Flood, Veronica H VH; Schlauderaff, Abraham C AC; Haberichter, Sandra L SL; Slobodianuk, Tricia L TL; Jacobi, Paula M PM; Bellissimo, Daniel B DB; Christopherson, Pamela A PA; Friedman, Kenneth D KD; Gill, Joan Cox JC; Hoffmann, Raymond G RG; Montgomery, Robert R RR; ,
Publication Date: 2015-04-02

Variant appearance in text: VWF: H1786D
PubMed Link: 25662333
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of the role of von Willebrand factor, platelet glycoprotein VI-, and α2β1-mediated collagen binding in thrombus formation.

Blood
Shida, Yasuaki Y; Rydz, Natalia N; Stegner, David D; Brown, Christine C; Mewburn, Jeffrey J; Sponagle, Kate K; Danisment, Ozge O; Crawford, Bredon B; Vidal, Barbara B; Hegadorn, Carol A CA; Pruss, Cynthia M CM; Nieswandt, Bernhard B; Lillicrap, David D
Publication Date: 2014-09-11

Variant appearance in text: VWF: H1786D
PubMed Link: 25051961
Variant Present in the following documents:
  • Main text
View BVdb publication page



Translational medicine advances in von Willebrand disease.

Journal Of Thrombosis And Haemostasis : Jth
Lillicrap, D D
Publication Date: 2013-06

Variant appearance in text: VWF: H1786D
PubMed Link: 23809112
Variant Present in the following documents:
  • Main text
View BVdb publication page



The molecular characterization of von Willebrand disease: good in parts.

British Journal Of Haematology
James, P D PD; Lillicrap, D D
Publication Date: 2013-04

Variant appearance in text: VWF: H1786D
PubMed Link: 23406206
Variant Present in the following documents:
  • Main text
View BVdb publication page



Critical von Willebrand factor A1 domain residues influence type VI collagen binding.

Journal Of Thrombosis And Haemostasis : Jth
Flood, V H VH; Gill, J C JC; Christopherson, P A PA; Bellissimo, D B DB; Friedman, K D KD; Haberichter, S L SL; Lentz, S R SR; Montgomery, R R RR
Publication Date: 2012-07

Variant appearance in text: VWF: H1786D
PubMed Link: 22507569
Variant Present in the following documents:
  • Main text
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von Willebrand disease: clinical and laboratory lessons learned from the large von Willebrand disease studies.

American Journal Of Hematology
James, Paula D PD; Lillicrap, David D
Publication Date: 2012-05

Variant appearance in text: VWF: H1786D
PubMed Link: 22389132
Variant Present in the following documents:
  • Main text
View BVdb publication page



Absent collagen binding in a VWF A3 domain mutant: utility of the VWF:CB in diagnosis of VWD.

Journal Of Thrombosis And Haemostasis : Jth
Flood, V H VH; Lederman, C A CA; Wren, J S JS; Christopherson, P A PA; Friedman, K D KD; Hoffmann, R G RG; Montgomery, R R RR
Publication Date: 2010-06

Variant appearance in text: VWF: H1786D
PubMed Link: 20345715
Variant Present in the following documents:
  • Main text
View BVdb publication page