VWF c.3814T>G ;(p.C1272G)

Variant ID: 12-6128770-A-C

NM_000552.3(VWF):c.3814T>G;(p.C1272G)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Specific electrostatic interactions between charged amino acid residues regulate binding of von Willebrand factor to blood platelets.

The Journal Of Biological Chemistry
Interlandi, Gianluca G; Yakovenko, Olga O; Tu, An-Yue AY; Harris, Jeff J; Le, Jennie J; Chen, Junmei J; López, José A JA; Thomas, Wendy E WE
Publication Date: 2017-11-10

Variant appearance in text: VWF: C1272G
PubMed Link: 28924049
Variant Present in the following documents:
  • Main text
View BVdb publication page



De novo mutation and somatic mosaicism of gene mutation in type 2A, 2B and 2M VWD.

Thrombosis Journal
Shen, Ming-Ching MC; Chen, Ming M; Ma, Gwo-Chin GC; Chang, Shun-Ping SP; Lin, Ching-Yeh CY; Lin, Bo-Do BD; Hsieh, Han-Ni HN
Publication Date: 2016

Variant appearance in text: VWF: Cys1272Gly
PubMed Link: 27766062
Variant Present in the following documents:
  • Main text
  • 12959_2016_Article_92.pdf
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: C1272G
PubMed Link: 24265179
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: C1272G
PubMed Link: 19665675
Variant Present in the following documents:
  • Main text
View BVdb publication page