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VWF c.1183_1184delinsGC ;(p.H395A)
Variant ID: 12-6174412-TG-GC
NM_000552.3(
VWF
):c.1183_1184delinsGC;(p.H395A)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
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dbSNP
Publications:
Structures of VWF tubules before and after concatemerization reveal a mechanism of disulfide bond exchange.
Blood
Anderson, Jacob R JR; Li, Jing J; Springer, Timothy A TA; Brown, Alan A
Publication Date: 2022-09-22
Variant appearance in text: VWF: H395A
PubMed Link:
35776905
Variant Present in the following documents:
bloodBLD2022016467-suppl1.pdf
10.1182-2022016467_bloodbld2022016467-suppl1.pdf
View BVdb publication page
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: H395A
PubMed Link:
21592973
Variant Present in the following documents:
Main text
View BVdb publication page