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VWF c.260A>C ;(p.Y87S)
Variant ID: 12-6220095-T-G
NM_000552.3(
VWF
):c.260A>C;(p.Y87S)
This variant was identified in 7 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Fibronectin binding to von Willebrand factor occurs via the A1 domain.
Research And Practice In Thrombosis And Haemostasis
Keesler, Daniel A DA; Slobodianuk, Tricia L TL; Kochelek, Caroline E CE; Skaer, Chad W CW; Haberichter, Sandra L SL; Flood, Veronica H VH
Publication Date: 2021-06
Variant appearance in text: VWF: Y87S
PubMed Link:
34136746
Variant Present in the following documents:
Main text
RTH2-5-e12534.pdf
View BVdb publication page
von Willebrand factor binding to myosin assists in coagulation.
Blood Advances
Flood, Veronica H VH; Slobodianuk, Tricia L TL; Keesler, Daniel D; Lohmeier, Hannah K HK; Fahs, Scot S; Zhang, Liyun L; Simpson, Pippa P; Montgomery, Robert R RR
Publication Date: 2020-01-14
Variant appearance in text: VWF: Y87S
PubMed Link:
31935285
Variant Present in the following documents:
Main text
View BVdb publication page
[The function and clinical value of Von Willebrand factor propeptide].
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi
Yin, Jie J; Ruan, Changgeng C
Publication Date: 2015-10
Variant appearance in text: VWF: Y87S
PubMed Link:
26477774
Variant Present in the following documents:
Main text
cjh-36-10-883.pdf
View BVdb publication page
von Willebrand factor propeptide: biology and clinical utility.
Blood
Haberichter, Sandra L SL
Publication Date: 2015-10-08
Variant appearance in text: VWF: Y87S
PubMed Link:
26215113
Variant Present in the following documents:
Main text
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: Y87S
PubMed Link:
21592973
Variant Present in the following documents:
Main text
View BVdb publication page
Functional architecture of Weibel-Palade bodies.
Blood
Valentijn, Karine M KM; Sadler, J Evan JE; Valentijn, Jack A JA; Voorberg, Jan J; Eikenboom, Jeroen J
Publication Date: 2011-05-12
Variant appearance in text: VWF: Y87S
PubMed Link:
21266719
Variant Present in the following documents:
Main text
View BVdb publication page
Genetic alteration of the D2 domain abolishes von Willebrand factor multimerization and trafficking into storage.
Journal Of Thrombosis And Haemostasis : Jth
Haberichter, S L SL; Allmann, A M AM; Jozwiak, M A MA; Montgomery, R R RR; Gill, J C JC
Publication Date: 2009-04
Variant appearance in text: VWF: Y87S
PubMed Link:
19192112
Variant Present in the following documents:
Main text
View BVdb publication page