Bibliome.ai browser hg19
Search
About
Stats
FAQ
VWF c.8317T>A ;(p.C2773S)
Variant ID: 12-6058306-A-T
NM_000552.3(
VWF
):c.8317T>A;(p.C2773S)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
The disulfide bond Cys2724-Cys2774 in the C-terminal cystine knot domain of von Willebrand factor is critical for its dimerization and secretion.
Thrombosis Journal
Zhang, Yuxin Y; Chen, Fengwu F; Yang, Aizhen A; Wang, Xiaoying X; Han, Yue Y; Wu, Depei D; Wu, Yi Y; Zhang, Jingyu J
Publication Date: 2021-11-27
Variant appearance in text: VWF: C2773S
PubMed Link:
34838051
Variant Present in the following documents:
Main text
12959_2021_Article_348.pdf
View BVdb publication page
Molecular Mechanisms and Determinants of Innovative Correction Approaches in Coagulation Factor Deficiencies.
International Journal Of Molecular Sciences
Balestra, Dario D; Branchini, Alessio A
Publication Date: 2019-06-21
Variant appearance in text: VWF: Cys2773Ser
PubMed Link:
31234407
Variant Present in the following documents:
Main text
ijms-20-03036.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: Cys2773Ser
PubMed Link:
30361419
Variant Present in the following documents:
Main text
View BVdb publication page
Highly reinforced structure of a C-terminal dimerization domain in von Willebrand factor.
Blood
Zhou, Yan-Feng YF; Springer, Timothy A TA
Publication Date: 2014-03-20
Variant appearance in text: VWF: C2773S
PubMed Link:
24394662
Variant Present in the following documents:
Main text
View BVdb publication page