VWF c.3613C>T ;(p.R1205C)

Variant ID: 12-6131127-G-A

NM_000552.3(VWF):c.3613C>T;(p.R1205C)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Sialylation on O-linked glycans protects von Willebrand factor from macrophage galactose lectin-mediated clearance.

Haematologica
Ward, Soracha E SE; O'Sullivan, Jamie M JM; Moran, Alan B AB; Spencer, Daniel I R DIR; Gardner, Richard A RA; Sharma, Jyotika J; Fazavana, Judicael J; Monopoli, Marco M; McKinnon, Thomas A J TAJ; Chion, Alain A; Haberichter, Sandra S; O'Donnell, James S JS
Publication Date: 2022-03-01

Variant appearance in text: VWF: R1205C
PubMed Link: 33763999
Variant Present in the following documents:
  • Main text
  • 2020_274720_WARD_SUPPL.pdf
  • 107668.pdf
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: rs373787920
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease: A New Epidemiologic Picture.

Medicine
Veyradier, Agnès A; Boisseau, Pierre P; Fressinaud, Edith E; Caron, Claudine C; Ternisien, Catherine C; Giraud, Mathilde M; Zawadzki, Christophe C; Trossaert, Marc M; Itzhar-Baïkian, Nathalie N; Dreyfus, Marie M; d'Oiron, Roseline R; Borel-Derlon, Annie A; Susen, Sophie S; Bezieau, Stéphane S; Denis, Cécile V CV; Goudemand, Jenny J; ,
Publication Date: 2016-03

Variant appearance in text: VWF: Arg1205Cys
PubMed Link: 26986123
Variant Present in the following documents:
  • Main text
  • medi-95-e3038.pdf
View BVdb publication page