VWF c.3445T>C ;(p.C1149R)

Variant ID: 12-6131999-A-G

NM_000552.3(VWF):c.3445T>C;(p.C1149R)

This variant was identified in 24 publications

View GRCh38 version.




Publications:


Association of Genetic and Allelic Variants of Von Willebrand Factor (VWF), Glutathione S-Transferase and Tumor Necrosis Factor Alpha with Ischemic Stroke Susceptibility and Progression in the Saudi Population.

Life (Basel, Switzerland)
Jalal, Mohammed M MM; Mir, Rashid R; Hamadi, Abdullah A; Altayar, Malik A MA; Elfaki, Imadeldin I; Barnawi, Jameel J; Alkayyal, Almohanad A AA; Amr, Mouminah M; Hadeel, Jabali J; Moawadh, Mamdoh S MS; Alsaedi, Basim S O BSO; Alhelali, Marwan H MH; Yousif, Aadil A
Publication Date: 2023-05-17

Variant appearance in text: VWF: 3445T>C; C1149R; rs61748511
PubMed Link: 37240845
Variant Present in the following documents:
  • Main text
  • life-13-01200.pdf
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: VWF: 3445T>C; Cys1149Arg
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Identification of von Willebrand factor D4 domain mutations in patients of Afro-Caribbean descent: In vitro characterization.

Research And Practice In Thrombosis And Haemostasis
Dubois, Marie-Daniéla MD; Peyron, Ivan I; Pierre-Louis, Olivier-Nicolas ON; Pierre-Louis, Serge S; Rabout, Johalène J; Boisseau, Pierre P; de Jong, Annika A; Susen, Sophie S; Goudemand, Jenny J; Neviere, Rémi R; Fuseau, Pascal P; Christophe, Olivier D OD; Lenting, Peter J PJ; Denis, Cécile V CV; Casari, Caterina C
Publication Date: 2022-05

Variant appearance in text: VWF: 3445T>C; Cys1149Arg
PubMed Link: 35734101
Variant Present in the following documents:
  • Main text
  • RTH2-6-e12737.pdf
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Desmopressin response depends on the presence and type of genetic variants in patients with type 1 and type 2 von Willebrand disease.

Blood Advances
Atiq, Ferdows F; Heijdra, Jessica J; Snijders, Fleur F; Boender, Johan J; Kempers, Eva E; van Heerde, Waander L WL; Maas, Dominique P M S M DPMSM; Krouwel, Sandy S; Schoormans, Selene C SC; de Meris, Joke J; Schols, Saskia E M SEM; van Galen, Karin P M KPM; van der Bom, Johanna G JG; Cnossen, Marjon H MH; Meijer, Karina K; Fijnvandraat, Karin K; Eikenboom, Jeroen J; Leebeek, Frank W G FWG
Publication Date: 2022-09-27

Variant appearance in text: VWF: C1149R
PubMed Link: 35446929
Variant Present in the following documents:
  • advancesADV2021006757.pdf
View BVdb publication page



Novel cysteine substitution p.(Cys1084Tyr) causes variable expressivity of qualitative and quantitative VWF defects.

Blood Advances
Rawley, Orla O; Swystun, Laura L LL; Brown, Christine C; Nesbitt, Kate K; Rand, Margaret M; Hossain, Taneya T; Klaassen, Robert R; James, Paula D PD; Carcao, Manuel D MD; Lillicrap, David D
Publication Date: 2022-05-10

Variant appearance in text: VWF: Cys1149Arg
PubMed Link: 35020809
Variant Present in the following documents:
  • Main text
  • advancesADV2021005928.pdf
View BVdb publication page



Quantitative 3D microscopy highlights altered von Willebrand factor α-granule storage in patients with von Willebrand disease with distinct pathogenic mechanisms.

Research And Practice In Thrombosis And Haemostasis
Swinkels, Maurice M; Atiq, Ferdows F; Bürgisser, Petra E PE; Slotman, Johan A JA; Houtsmuller, Adriaan B AB; de Heus, Cilia C; Klumperman, Judith J; Leebeek, Frank W G FWG; Voorberg, Jan J; Jansen, Arend Jan Gerard AJG; Bierings, Ruben R
Publication Date: 2021-08

Variant appearance in text: VWF: Cys1149Arg
PubMed Link: 34532631
Variant Present in the following documents:
  • RTH2-5-e12595.pdf
View BVdb publication page



Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances
Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X
Publication Date: 2020-07

Variant appearance in text: VWF: 3445T>C; Cys1149Arg
PubMed Link: 32832622
Variant Present in the following documents:
  • aba1773_Data_file_S1.xlsx, sheet 2
View BVdb publication page



The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.

Genomics, Proteomics & Bioinformatics
Sun, Jing J; Zhang, Yanfang Y; Wang, Minhui M; Guan, Qian Q; Yang, Xiujia X; Ou, Jin Xia JX; Yan, Mingchen M; Wang, Chengrui C; Zhang, Yan Y; Li, Zhi-Hao ZH; Lan, Chunhong C; Mao, Chen C; Zhou, Hong-Wei HW; Hao, Bingtao B; Zhang, Zhenhai Z
Publication Date: 2020-10

Variant appearance in text: VWF: 3445T>C; Cys1149Arg
PubMed Link: 32827758
Variant Present in the following documents:
  • mmc12.xlsx, sheet 1
View BVdb publication page



Genetic Variation in the von Willebrand Factor Gene in Swedish von Willebrand Disease Patients.

Th Open : Companion Journal To Thrombosis And Haemostasis
Manderstedt, Eric E; Lind-Halldén, Christina C; Lethagen, Stefan S; Halldén, Christer C
Publication Date: 2018-01

Variant appearance in text: VWF: 3445T>C; C1149R; rs61748511
PubMed Link: 31249928
Variant Present in the following documents:
  • Main text
  • 10-1055-s-0037-1618571.pdf
View BVdb publication page



Role of multimeric analysis of von Willebrand factor (VWF) in von Willebrand disease (VWD) diagnosis: Lessons from the PCM-EVW-ES Spanish project.

Plos One
Pérez-Rodríguez, Almudena A; Batlle, Javier J; Corrales, Irene I; Borràs, Nina N; 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; Navarro, Nira N; Altisent, Carmen C; Pérez-Montes, Rocío R; Marcellini, Shally S; Moreto, Ana A; Herrero, Sonia S; Soto, Inmaculada I; Fernández Mosteirín, Nuria N; Jiménez-Yuste, Víctor V; Alonso, Nieves N; de Andrés Jacob, Aurora A; Fontanes, Emilia E; 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; Castro Quismondo, Nerea N; Iñigo, Belén B; Nieto, María Del Mar MDM; Vidal, Rosa R; Martínez, María Paz MP; Aguinaco, Reyes R; Tenorio, Maria M; Ferreiro, María M; García-Frade, Javier J; Rodríguez-Huerta, Ana María AM; Cuesta, Jorge J; Rodríguez-González, Ramón R; García-Candel, Faustino F; Dobón, Manuela M; Aguilar, Carlos C; Batlle, Fernando F; Vidal, Francisco F; López-Fernández, María Fernanda MF
Publication Date: 2018

Variant appearance in text: VWF: C1149R
PubMed Link: 29924855
Variant Present in the following documents:
  • pone.0197876.pdf
View BVdb publication page



Association between Genetic Polymorphism and Risk of von Willebrand Disease in Pakistan.

Biomed Research International
Arshad, Najma N; Nawaz, Syed Kashif SK; Iqbal, Riffat R; Arshad, Muhammad M; Musheer, Farhana F; Naz, Amber A; Mushtaq, Iqra I; Jaleel, Sara S
Publication Date: 2017

Variant appearance in text: VWF: 3445T>C; Cys1149Arg
PubMed Link: 29423401
Variant Present in the following documents:
  • Main text
  • BMRI2017-1070471.pdf
View BVdb publication page



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: 3445T>C; Cys1149Arg
PubMed Link: 28971901
Variant Present in the following documents:
  • 2017.168765.BORRAS_SUPPL.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: Cys1149Arg
PubMed Link: 27483487
Variant Present in the following documents:
  • Main text
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: VWF: C1149R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM2_ESM.xls, sheet 1
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
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: C1149R
PubMed Link: 24385719
Variant Present in the following documents:
  • TJH-29-313.pdf
View BVdb publication page



Biogenesis of Weibel-Palade bodies in von Willebrand's disease variants with impaired von Willebrand factor intrachain or interchain disulfide bond formation.

Haematologica
Wang, Jiong-Wei JW; Groeneveld, Dafna J DJ; Cosemans, Guy G; Dirven, Richard J RJ; Valentijn, Karine M KM; Voorberg, Jan J; Reitsma, Pieter H PH; Eikenboom, Jeroen J
Publication Date: 2012-06

Variant appearance in text: VWF: Cys1149Arg
PubMed Link: 22207689
Variant Present in the following documents:
  • Main text
View BVdb publication page



Von Willebrand disease: an overview.

Indian Journal Of Pharmaceutical Sciences
Bharati, K Pavani KP; Prashanth, U Ram UR
Publication Date: 2011-01

Variant appearance in text: VWF: Cys1149Arg
PubMed Link: 22131616
Variant Present in the following documents:
  • IJPhS-73-7.pdf
View BVdb publication page



Intracellular storage and regulated secretion of von Willebrand factor in quantitative von Willebrand disease.

The Journal Of Biological Chemistry
Wang, Jiong-Wei JW; Valentijn, Karine M KM; de Boer, Hetty C HC; Dirven, Richard J RJ; van Zonneveld, Anton Jan AJ; Koster, Abraham J AJ; Voorberg, Jan J; Reitsma, Pieter H PH; Eikenboom, Jeroen J
Publication Date: 2011-07-08

Variant appearance in text: VWF: C1149R
PubMed Link: 21596755
Variant Present in the following documents:
  • Main text
View BVdb publication page



The mutation N528S in the von Willebrand factor (VWF) propeptide causes defective multimerization and storage of VWF.

Blood
Haberichter, Sandra L SL; Budde, Ulrich U; Obser, Tobias T; Schneppenheim, Sonja S; Wermes, Cornelia C; Schneppenheim, Reinhard R
Publication Date: 2010-06-03

Variant appearance in text: VWF: C1149R
PubMed Link: 20335223
Variant Present in the following documents:
  • Main text
View BVdb publication page



Accelerated clearance alone explains ultra-large multimers in von Willebrand disease Vicenza.

Journal Of Thrombosis And Haemostasis : Jth
Gézsi, A A; Budde, U U; Deák, I I; Nagy, E E; Mohl, A A; Schlammadinger, A A; Boda, Z Z; Masszi, T T; Sadler, J E JE; Bodó, I I
Publication Date: 2010-06

Variant appearance in text: VWF: C1149R
PubMed Link: 20088930
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: C1149R
PubMed Link: 19665675
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical and laboratory versus molecular markers for a correct classification of von Willebrand disease.

Haematologica
Federici, Augusto B AB; Canciani, Maria T MT
Publication Date: 2009-05

Variant appearance in text: VWF: C1149R
PubMed Link: 19407316
Variant Present in the following documents:
  • Main text
View BVdb publication page



Autosomal dominant C1149R von Willebrand disease: phenotypic findings and their implications.

Haematologica
Pérez-Rodríguez, Almudena A; García-Rivero, Aranzazu A; Lourés, Esther E; López-Fernández, Maria Fernanda MF; Rodríguez-Trillo, Angela A; Batlle, Javier J
Publication Date: 2009-05

Variant appearance in text: VWF: Cys1149Arg
PubMed Link: 19286880
Variant Present in the following documents:
  • Main text
View BVdb publication page



Assay of the von Willebrand factor (VWF) propeptide to identify patients with type 1 von Willebrand disease with decreased VWF survival.

Blood
Haberichter, Sandra L SL; Balistreri, Michael M; Christopherson, Pamela P; Morateck, Patricia P; Gavazova, Stefana S; Bellissimo, Daniel B DB; Manco-Johnson, Marilyn J MJ; Gill, Joan Cox JC; Montgomery, Robert R RR
Publication Date: 2006-11-15

Variant appearance in text: VWF: C1149R
PubMed Link: 16835381
Variant Present in the following documents:
  • Main text
View BVdb publication page