VWF c.546G>A ;(p.S182=)

Variant ID: 12-6204737-C-T

NM_000552.3(VWF):c.546G>A;(p.S182=)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Publication Date: 2022-07-13

Variant appearance in text: VWF: 546G>A
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



Role of ADAMTS13, VWF and F8 genes in deep vein thrombosis.

Plos One
Pagliari, Maria Teresa MT; Cairo, Andrea A; Boscarino, Marco M; Mancini, Ilaria I; Pappalardo, Emanuela E; Bucciarelli, Paolo P; Martinelli, Ida I; Rosendaal, Frits R FR; Peyvandi, Flora F
Publication Date: 2021

Variant appearance in text: VWF: S182S; rs143054357
PubMed Link: 34662354
Variant Present in the following documents:
  • pone.0258675.s002.pdf
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: 546G>A; rs143054357
PubMed Link: 31249928
Variant Present in the following documents:
  • Main text
  • 10-1055-s-0037-1618571.pdf
View BVdb publication page



Unraveling the effect of silent, intronic and missense mutations on VWF splicing: contribution of next generation sequencing in the study of mRNA.

Haematologica
Borràs, Nina N; Orriols, Gerard G; Batlle, Javier J; Pérez-Rodríguez, Almudena A; Fidalgo, Teresa T; Martinho, Patricia P; López-Fernández, María Fernanda MF; Rodríguez-Trillo, Ángela Á; Lourés, Esther E; Parra, Rafael R; Altisent, Carme C; Cid, Ana Rosa AR; Bonanad, Santiago S; Cabrera, Noelia N; Moret, Andrés A; Mingot-Castellano, María Eva ME; Navarro, Nira N; Pérez-Montes, Rocío R; Marcellin, Sally S; Moreto, Ana A; Herrero, Sonia S; Soto, Inmaculada I; Fernández-Mosteirín, Núria 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, Ruben R; Mateo, José J; Arribalzaga, Karmele K; Marco, Pascual P; Palomo, Ángeles Á; Quismondo, Nerea Castro NC; Iñigo, Belén B; Nieto, María Del Mar MDM; Vidal, Rosa R; Martínez, María Paz MP; Aguinaco, Reyes R; Tenorio, 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; Dobón, Manuela M; Aguilar, Carlos C; Vidal, Francisco F; Corrales, Irene I
Publication Date: 2019-03

Variant appearance in text: VWF: 546G>A
PubMed Link: 30361419
Variant Present in the following documents:
  • Main text
  • 1040587.pdf
View BVdb publication page



Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene
Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D
Publication Date: 2017-01-05

Variant appearance in text: VWF: S182S
PubMed Link: 27270441
Variant Present in the following documents:
  • onc2016172x3.xls, sheet 3
View BVdb publication page