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VWF c.2210A>G ;(p.H737R)
Variant ID: 12-6155960-T-C
NM_000552.3(
VWF
):c.2210A>G;(p.H737R)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
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: H737R
PubMed Link:
35776905
Variant Present in the following documents:
bloodBLD2022016467-suppl1.pdf
10.1182-2022016467_bloodbld2022016467-suppl1.pdf
View BVdb publication page
Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.
Frontiers In Immunology
Li, Na N; Wang, Jiahong J; Zhan, Xianquan X
Publication Date: 2021
Variant appearance in text: VWF: 2210A>G
PubMed Link:
34887858
Variant Present in the following documents:
Table_3.xlsx, sheet 1
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: H737R
PubMed Link:
21592973
Variant Present in the following documents:
Main text
View BVdb publication page