VWF c.2491_2492delinsGC ;(p.H831A)

Variant ID: 12-6145608-TG-GC

NM_000552.3(VWF):c.2491_2492delinsGC;(p.H831A)

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:

Phylogenetic and functional analysis of histidine residues essential for pH-dependent multimerization of von Willebrand factor.

The Journal Of Biological Chemistry
Dang, Luke T LT; Purvis, Angie R AR; Huang, Ren-Huai RH; Westfield, Lisa A LA; Sadler, J Evan JE
Publication Date: 2011-07-22

Variant appearance in text: VWF: H831A
PubMed Link: 21592973
Variant Present in the following documents:
  • Main text
View BVdb publication page