VWF c.8216G>A ;(p.C2739Y)

Variant ID: 12-6058989-C-T

NM_000552.3(VWF):c.8216G>A;(p.C2739Y)

This variant was identified in 7 publications

View GRCh38 version.




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: C2739Y
PubMed Link: 34838051
Variant Present in the following documents:
  • Main text
  • 12959_2021_Article_348.pdf
View BVdb publication page



Genotypes of European and Iranian patients with type 3 von Willebrand disease enrolled in 3WINTERS-IPS.

Blood Advances
Baronciani, Luciano L; Peake, Ian I; Schneppenheim, Reinhard R; Goodeve, Anne A; Ahmadinejad, Minoo M; Badiee, Zahra Z; Baghaipour, Mohammad-Reza MR; Benitez, Olga O; Bodó, Imre I; Budde, Ulrich U; Cairo, Andrea A; Castaman, Giancarlo G; Eshghi, Peyman P; Goudemand, Jenny J; Hassenpflug, Wolf W; Hoorfar, Hamid H; Karimi, Mehran M; Keikhaei, Bijan B; Lassila, Riitta R; Leebeek, Frank W G FWG; Lopez Fernandez, Maria Fernanda MF; Mannucci, Pier Mannuccio PM; Marino, Renato R; Nikšić, Nikolas N; Oyen, Florian F; Santoro, Cristina C; Tiede, Andreas A; Toogeh, Gholamreza G; Tosetto, Alberto A; Trossaert, Marc M; Zetterberg, Eva M K EMK; Eikenboom, Jeroen J; Federici, Augusto B AB; Peyvandi, Flora F
Publication Date: 2021-08-10

Variant appearance in text: VWF: 8216G>A; Cys2739Tyr; rs61751305
PubMed Link: 34351388
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: VWF: 8216G>A; rs61751305
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
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: C2739Y
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



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: C2739Y
PubMed Link: 24394662
Variant Present in the following documents:
  • Main text
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: Cys2739Tyr
PubMed Link: 22207689
Variant Present in the following documents:
  • Main text
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: C2739Y
PubMed Link: 21596755
Variant Present in the following documents:
  • Main text
View BVdb publication page