VWF c.3814T>A ;(p.C1272S)

Variant ID: 12-6128770-A-T

NM_000552.3(VWF):c.3814T>A;(p.C1272S)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Enhanced Local Disorder in a Clinically Elusive von Willebrand Factor Provokes High-Affinity Platelet Clumping.

Journal Of Molecular Biology
Tischer, Alexander A; Machha, Venkata R VR; Frontroth, Juan P JP; Brehm, Maria A MA; Obser, Tobias T; Schneppenheim, Reinhard R; Mayne, Leland L; Walter Englander, S S; Auton, Matthew M
Publication Date: 2017-07-07

Variant appearance in text: VWF: C1272S
PubMed Link: 28533135
Variant Present in the following documents:
  • Main text
View BVdb publication page



A molten globule intermediate of the von Willebrand factor A1 domain firmly tethers platelets under shear flow.

Proteins
Tischer, Alexander A; Madde, Pranathi P; Blancas-Mejia, Luis M LM; Auton, Matthew M
Publication Date: 2014-05

Variant appearance in text: VWF: C1272S
PubMed Link: 24265179
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification and functional analysis of a novel von Willebrand factor mutation in a family with type 2A von Willebrand disease.

Plos One
Dong, Jing J; Zhao, Xiaojuan X; Shi, Sensen S; Ma, Zhenni Z; Liu, Meng M; Wu, Qingyu Q; Ruan, Changgeng C; Dong, Ningzheng N
Publication Date: 2012

Variant appearance in text: VWF: C1272S
PubMed Link: 22479377
Variant Present in the following documents:
  • pone.0033263.pdf
View BVdb publication page



Intersection of mechanisms of type 2A VWD through defects in VWF multimerization, secretion, ADAMTS-13 susceptibility, and regulated storage.

Blood
Jacobi, Paula M PM; Gill, Joan Cox JC; Flood, Veronica H VH; Jakab, David A DA; Friedman, Kenneth D KD; Haberichter, Sandra L SL
Publication Date: 2012-05-10

Variant appearance in text: VWF: C1272S
PubMed Link: 22431572
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: C1272S
PubMed Link: 19665675
Variant Present in the following documents:
  • Main text
View BVdb publication page