VWF c.3815G>T ;(p.C1272F)

Variant ID: 12-6128769-C-A

NM_000552.3(VWF):c.3815G>T;(p.C1272F)

This variant was identified in 3 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: C1272F
PubMed Link: 28533135
Variant Present in the following documents:
  • Main text
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: C1272F
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



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: C1272F
PubMed Link: 24265179
Variant Present in the following documents:
  • Main text
View BVdb publication page