VWF c.4813_4815delinsATG ;(p.Y1605M)

Variant ID: 12-6127769-GTA-CAT

NM_000552.3(VWF):c.4813_4815delinsATG;(p.Y1605M)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Conformational plasticity of ADAMTS13 in hemostasis and autoimmunity.

The Journal Of Biological Chemistry
Ercig, Bogac B; Arfman, Tom T; Hrdinova, Johana J; Wichapong, Kanin K; Reutelingsperger, Chris P M CPM; Vanhoorelbeke, Karen K; Nicolaes, Gerry A F GAF; Voorberg, Jan J
Publication Date: 2021-10

Variant appearance in text: VWF: Tyr1605Met
PubMed Link: 34461090
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Markers of Endothelial Cells in Normal and Pathological Conditions.

Biochemistry (Moscow) Supplement. Series A, Membrane And Cell Biology
Goncharov, N V NV; Popova, P I PI; Avdonin, P P PP; Kudryavtsev, I V IV; Serebryakova, M K MK; Korf, E A EA; Avdonin, P V PV
Publication Date: 2020

Variant appearance in text: VWF: Tyr1605Met
PubMed Link: 33072245
Variant Present in the following documents:
  • 11827_2020_Article_5070.pdf
View BVdb publication page



AFM Imaging Reveals Multiple Conformational States of ADAMTS13.

Journal Of Biological Engineering
Yu, Shanshan S; Liu, Wang W; Fang, Jinhua J; Shi, Xiaozhong X; Wu, Jianhua J; Fang, Ying Y; Lin, Jiangguo J
Publication Date: 2019

Variant appearance in text: VWF: Tyr1605Met
PubMed Link: 30679946
Variant Present in the following documents:
  • 13036_2018_Article_102.pdf
View BVdb publication page



Conformational quiescence of ADAMTS-13 prevents proteolytic promiscuity.

Journal Of Thrombosis And Haemostasis : Jth
South, K K; Freitas, M O MO; Lane, D A DA
Publication Date: 2016-10

Variant appearance in text: VWF: Tyr1605Met
PubMed Link: 27514025
Variant Present in the following documents:
  • JTH-14-2011.pdf
View BVdb publication page