VWF c.4892G>A ;(p.G1631D)

Variant ID: 12-6127692-C-T

NM_000552.3(VWF):c.4892G>A;(p.G1631D)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


A comparative study in patients with type 2 von Willebrand disease using 4 different platelet-dependent von Willebrand factor assays.

Research And Practice In Thrombosis And Haemostasis
Colpani, Paola P; Baronciani, Luciano L; Stufano, Francesca F; Cozzi, Giovanna G; Boscarino, Marco M; Pagliari, Maria Teresa MT; Biguzzi, Eugenia E; Peyvandi, Flora F
Publication Date: 2023-03

Variant appearance in text: VWF: Gly1631Asp
PubMed Link: 37215093
Variant Present in the following documents:
  • Main text
  • main.pdf
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A common mechanism by which type 2A von Willebrand disease mutations enhance ADAMTS13 proteolysis revealed with a von Willebrand factor A2 domain FRET construct.

Plos One
Lynch, Christopher J CJ; Cawte, Adam D AD; Millar, Carolyn M CM; Rueda, David D; Lane, David A DA
Publication Date: 2017

Variant appearance in text: VWF: G1631D
PubMed Link: 29186156
Variant Present in the following documents:
  • Main text
  • pone.0188405.pdf
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Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients.

Haematologica
Borràs, Nina N; Batlle, Javier J; Pérez-Rodríguez, Almudena A; López-Fernández, María Fernanda MF; Rodríguez-Trillo, Ángela Á; Lourés, Esther E; Cid, Ana Rosa AR; Bonanad, Santiago S; Cabrera, Noelia N; Moret, Andrés A; Parra, Rafael R; Mingot-Castellano, María Eva ME; Balda, Ignacia I; Altisent, Carme C; Pérez-Montes, Rocío R; Fisac, Rosa María RM; Iruín, Gemma G; Herrero, Sonia S; Soto, Inmaculada I; de Rueda, Beatriz B; Jiménez-Yuste, Víctor V; Alonso, Nieves N; Vilariño, Dolores D; Arija, Olga O; Campos, Rosa R; Paloma, María José MJ; Bermejo, Nuria N; Berrueco, Rubén R; Mateo, José J; Arribalzaga, Karmele K; Marco, Pascual P; Palomo, Ángeles Á; Sarmiento, Lizheidy L; Iñigo, Belén B; Nieto, María Del Mar MDM; Vidal, Rosa R; Martínez, María Paz MP; Aguinaco, Reyes R; César, Jesús María JM; Ferreiro, María M; García-Frade, Javier J; Rodríguez-Huerta, Ana María AM; Cuesta, Jorge J; Rodríguez-González, Ramón R; García-Candel, Faustino F; Cornudella, Rosa R; Aguilar, Carlos C; Vidal, Francisco F; Corrales, Irene I
Publication Date: 2017-12

Variant appearance in text: VWF: 4892G>A; Gly1631Asp
PubMed Link: 28971901
Variant Present in the following documents:
  • 2017.168765.BORRAS_SUPPL.pdf
View BVdb publication page



Mutation G1629E Increases von Willebrand Factor Cleavage via a Cooperative Destabilization Mechanism.

Biophysical Journal
Aponte-Santamaría, Camilo C; Lippok, Svenja S; Mittag, Judith J JJ; Obser, Tobias T; Schneppenheim, Reinhard R; Baldauf, Carsten C; Gräter, Frauke F; Budde, Ulrich U; Rädler, Joachim O JO
Publication Date: 2017-01-10

Variant appearance in text: VWF: G1631D
PubMed Link: 28076816
Variant Present in the following documents:
  • Main text
View BVdb publication page



Intersection of mechanisms of type 2A VWD through defects in VWF multimerization, secretion, ADAMTS-13 susceptibility, and regulated storage.

Blood
Jacobi, Paula M PM; Gill, Joan Cox JC; Flood, Veronica H VH; Jakab, David A DA; Friedman, Kenneth D KD; Haberichter, Sandra L SL
Publication Date: 2012-05-10

Variant appearance in text: VWF: G1631D
PubMed Link: 22431572
Variant Present in the following documents:
  • Main text
View BVdb publication page



Laboratory testing for von Willebrand disease: toward a mechanism-based classification.

Clinics In Laboratory Medicine
Torres, Richard R; Fedoriw, Yuri Y
Publication Date: 2009-06

Variant appearance in text: VWF: G1631D
PubMed Link: 19665675
Variant Present in the following documents:
  • Main text
View BVdb publication page