Bibliome.ai browser hg19
Search
About
Stats
FAQ
VWF c.3475_3476delinsGC ;(p.H1159A)
Variant ID: 12-6131968-TG-GC
NM_000552.3(
VWF
):c.3475_3476delinsGC;(p.H1159A)
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: H1159A
PubMed Link:
21592973
Variant Present in the following documents:
Main text
View BVdb publication page