APC c.6547T>G ;(p.S2183A)

Variant ID: 5-112177838-T-G

NM_000038.5(APC):c.6547T>G;(p.S2183A)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


An engineered activated factor V for the prevention and treatment of acute traumatic coagulopathy and bleeding in mice.

Blood Advances
Joseph, Bilgimol Chumappumkal BC; Miyazawa, Byron Y BY; Esmon, Charles T CT; Cohen, Mitchell J MJ; von Drygalski, Annette A; Mosnier, Laurent O LO
Publication Date: 2022-02-08

Variant appearance in text: APC: S2183A
PubMed Link: 34861695
Variant Present in the following documents:
  • Main text
  • advancesADV2021005257.pdf
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Improved coagulation and haemostasis in haemophilia with inhibitors by combinations of superFactor Va and Factor VIIa.

Thrombosis And Haemostasis
Bhat, Vikas V; von Drygalski, Annette A; Gale, Andrew J AJ; Griffin, John H JH; Mosnier, Laurent O LO
Publication Date: 2016-03

Variant appearance in text: APC: S2183A
PubMed Link: 26466980
Variant Present in the following documents:
  • Main text
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An engineered factor Va prevents bleeding induced by anticoagulant wt activated protein C.

Plos One
von Drygalski, Annette A; Bhat, Vikas V; Gale, Andrew J AJ; Burnier, Laurent L; Cramer, Thomas J TJ; Griffin, John H JH; Mosnier, Laurent O LO
Publication Date: 2014

Variant appearance in text: APC: S2183A
PubMed Link: 25127130
Variant Present in the following documents:
  • Main text
  • pone.0104304.pdf
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Improved hemostasis in hemophilia mice by means of an engineered factor Va mutant.

Journal Of Thrombosis And Haemostasis : Jth
von Drygalski, A A; Cramer, T J TJ; Bhat, V V; Griffin, J H JH; Gale, A J AJ; Mosnier, L O LO
Publication Date: 2014

Variant appearance in text: APC: S2183A
PubMed Link: 24818532
Variant Present in the following documents:
  • Main text
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Factor V is an anticoagulant cofactor for activated protein C during inactivation of factor Va.

Pathophysiology Of Haemostasis And Thrombosis
Cramer, Thomas J TJ; Griffin, John H JH; Gale, Andrew J AJ
Publication Date: 2010

Variant appearance in text: APC: Ser2183Ala
PubMed Link: 20501981
Variant Present in the following documents:
  • Main text
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Prothrombin amino terminal region helps protect coagulation factor Va from proteolytic inactivation by activated protein C.

Thrombosis And Haemostasis
Yegneswaran, Subramanian S; Nguyen, Phuong M PM; Gale, Andrew J AJ; Griffin, John H JH
Publication Date: 2009-01

Variant appearance in text: APC: S2183A
PubMed Link: 19132189
Variant Present in the following documents:
  • Main text
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Interdomain engineered disulfide bond permitting elucidation of mechanisms of inactivation of coagulation factor Va by activated protein C.

Protein Science : A Publication Of The Protein Society
Gale, Andrew J AJ; Xu, Xiao X; Pellequer, Jean-Luc JL; Getzoff, Elizabeth D ED; Griffin, John H JH
Publication Date: 2002-09

Variant appearance in text: APC: S2183A
PubMed Link: 12192065
Variant Present in the following documents:
  • Main text
View BVdb publication page