VWF c.3923G>T ;(p.R1308L)

Variant ID: 12-6128661-C-A

NM_000552.3(VWF):c.3923G>T;(p.R1308L)

This variant was identified in 11 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: Arg1308Leu
PubMed Link: 37215093
Variant Present in the following documents:
  • Main text
  • main.pdf
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Phenotypic and genetic characterizations of the Milan cohort of von Willebrand disease type 2.

Blood Advances
Seidizadeh, Omid O; Baronciani, Luciano L; Pagliari, Maria Teresa MT; Cozzi, Giovanna G; Colpani, Paola P; Cairo, Andrea A; Siboni, Simona Maria SM; Biguzzi, Eugenia E; Peyvandi, Flora F
Publication Date: 2022-07-12

Variant appearance in text: VWF: R1308L
PubMed Link: 35452508
Variant Present in the following documents:
  • advancesADV2022007216.pdf
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The dominant p.Thr274Pro mutation in the von Willebrand factor propeptide causes the von Willebrand disease type 1 phenotype in two unrelated patients.

Haemophilia : The Official Journal Of The World Federation Of Hemophilia
Pagliari, Maria Teresa MT; Baronciani, Luciano L; Cordiglieri, Chiara C; Colpani, Paola P; Cozzi, Giovanna G; Siboni, Simona M SM; Peyvandi, Flora F
Publication Date: 2022-03

Variant appearance in text: VWF: R1308L
PubMed Link: 35064738
Variant Present in the following documents:
  • HAE-28-292.pdf
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Shear Stress Accumulation Enhances von Willebrand Factor-Induced Platelet P-Selectin Translocation in a PI3K/Akt Pathway-Dependent Manner.

Frontiers In Cell And Developmental Biology
Fang, Jinhua J; Sun, Xiaoxi X; Liu, Silu S; Yang, Pu P; Lin, Jiangguo J; Feng, Jingjing J; Cruz, Miguel A MA; Dong, Jing-Fei JF; Fang, Ying Y; Wu, Jianhua J
Publication Date: 2021

Variant appearance in text: VWF: R1308L
PubMed Link: 34141704
Variant Present in the following documents:
  • Main text
  • fcell-09-642108.pdf
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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: VWF: R1308L
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
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Comparison of von Willebrand factor platelet-binding activity assays: ELISA overreads type 2B with loss of HMW multimers.

Journal Of Thrombosis And Haemostasis : Jth
Szederjesi, Attila A; Baronciani, Luciano L; Budde, Ulrich U; Castaman, Giancarlo G; Colpani, Paola P; Lawrie, Andrew S AS; Liu, Yuan Y; Montgomery, Robert R; Peyvandi, Flora F; Schneppenheim, Reinhard R; Patzke, Jürgen J; Bodó, Imre I
Publication Date: 2020-10

Variant appearance in text: VWF: R1308L
PubMed Link: 32573891
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Von Willebrand Factor A1-Collagen III Interaction Is Independent of Conformation and Type 2 Von Willebrand Disease Phenotype.

Journal Of Molecular Biology
Machha, Venkata R VR; Tischer, Alexander A; Moon-Tasson, Laurie L; Auton, Matthew M
Publication Date: 2017-01-06

Variant appearance in text: VWF: R1308L
PubMed Link: 27889474
Variant Present in the following documents:
  • Main text
View BVdb publication page



The molecular genetics of von Willebrand disease.

Turkish Journal Of Haematology : Official Journal Of Turkish Society Of Haematology
Berber, Ergül E
Publication Date: 2012-12

Variant appearance in text: VWF: R1308L
PubMed Link: 24385719
Variant Present in the following documents:
  • TJH-29-313.pdf
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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: R1308L
PubMed Link: 23809112
Variant Present in the following documents:
  • Main text
View BVdb publication page



von Willebrand disease.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
James, Paula D PD; Goodeve, Anne C AC
Publication Date: 2011-05

Variant appearance in text: VWF: Arg1308Leu
PubMed Link: 21289515
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: R1308L
PubMed Link: 19665675
Variant Present in the following documents:
  • Main text
View BVdb publication page