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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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
View BVdb publication page
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
View BVdb publication page
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
View BVdb publication page
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
View BVdb publication page
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
View BVdb publication page
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
View BVdb publication page
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