VWF c.4813_4814delinsGC ;(p.Y1605A)

Variant ID: 12-6127770-TA-GC

NM_000552.3(VWF):c.4813_4814delinsGC;(p.Y1605A)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Multimerin 1 supports platelet function in vivo and binds to specific GPAGPOGPX motifs in fibrillar collagens that enhance platelet adhesion.

Journal Of Thrombosis And Haemostasis : Jth
Leatherdale, Alexander A; Parker, D'Andra D; Tasneem, Subia S; Wang, Yiming Y; Bihan, Dominique D; Bonna, Arkadiusz A; Hamaia, Samir W SW; Gross, Peter L PL; Ni, Heyu H; Doble, Bradley W BW; Lillicrap, David D; Farndale, Richard W RW; Hayward, Catherine P M CPM
Publication Date: 2021-02

Variant appearance in text: VWF: Y1605A
PubMed Link: 33179420
Variant Present in the following documents:
  • JTH-19-547.pdf
View BVdb publication page



Shear stress and platelet-induced tensile forces regulate ADAMTS13-localization within the platelet thrombus.

Research And Practice In Thrombosis And Haemostasis
Shida, Yasuaki Y; Swystun, Laura L LL; Brown, Christine C; Mewburn, Jeffrey J; Nesbitt, Kate K; Danisment, Ozge O; Riches, Jonathan Jacob JJ; Hough, Christine C; Lillicrap, David D
Publication Date: 2019-04

Variant appearance in text: VWF: Y1605A
PubMed Link: 31011709
Variant Present in the following documents:
  • RTH2-3-254.pdf
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Von Willebrand Factor Abnormalities Studied in the Mouse Model: What We Learned about VWF Functions.

Mediterranean Journal Of Hematology And Infectious Diseases
Casari, Caterina C; Lenting, Peter J PJ; Christophe, Olivier D OD; Denis, Cécile V CV
Publication Date: 2013

Variant appearance in text: VWF: Y1605A
PubMed Link: 23936618
Variant Present in the following documents:
  • Main text
  • mjhid-5-1-e2013047.pdf
View BVdb publication page



Use of a mouse model to elucidate the phenotypic effects of the von Willebrand factor cleavage mutants, Y1605A/M1606A and R1597W.

Journal Of Thrombosis And Haemostasis : Jth
Pruss, C M CM; Golder, M M; Bryant, A A; Hegadorn, C C; Haberichter, S S; Lillicrap, D D
Publication Date: 2012-05

Variant appearance in text: VWF: Y1605A
PubMed Link: 22372972
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mechanism of von Willebrand factor scissile bond cleavage by a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13 (ADAMTS13).

Proceedings Of The National Academy Of Sciences Of The United States Of America
Xiang, Yaozu Y; de Groot, Rens R; Crawley, James T B JT; Lane, David A DA
Publication Date: 2011-07-12

Variant appearance in text: VWF: Tyr1605Ala
PubMed Link: 21705658
Variant Present in the following documents:
  • Main text
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The ADAMTS13 metalloprotease domain: roles of subsites in enzyme activity and specificity.

Blood
de Groot, Rens R; Lane, David A DA; Crawley, James T B JT
Publication Date: 2010-10-21

Variant appearance in text: VWF: Y1605A
PubMed Link: 20647566
Variant Present in the following documents:
  • Main text
View BVdb publication page