VWF c.3783C>G ;(p.D1261E)

Variant ID: 12-6128801-G-C

NM_000552.3(VWF):c.3783C>G;(p.D1261E)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

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: D1261E
PubMed Link: 28924049
Variant Present in the following documents:
  • Main text
View BVdb publication page