APC c.559_560delinsCA ;(p.R187Q)

Variant ID: 5-112116514-AG-CA

NM_000038.5(APC):c.559_560delinsCA;(p.R187Q)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Ile73Asn mutation in protein C introduces a new N-linked glycosylation site on the first EGF-domain of protein C and causes thrombosis.

Haematologica
Lu, Yeling Y; Mehta-D'souza, Padmaja P; Biswas, Indranil I; Villoutreix, Bruno O BO; Wang, Xuefeng X; Ding, Qiulan Q; Rezaie, Alireza R AR
Publication Date: 2020-06

Variant appearance in text: APC: R187Q
PubMed Link: 31399531
Variant Present in the following documents:
  • Main text
  • 1051712.pdf
  • 2019.227033.LU_SUPPL.pdf
View BVdb publication page



Evidence of the E*-E equilibrium from rapid kinetics of Na+ binding to activated protein C and factor Xa.

The Journal Of Physical Chemistry. B
Vogt, Austin D AD; Bah, Alaji A; Di Cera, Enrico E
Publication Date: 2010-12-16

Variant appearance in text: APC: R187Q
PubMed Link: 20809655
Variant Present in the following documents:
  • Main text
View BVdb publication page



Thrombin.

Molecular Aspects Of Medicine
Di Cera, Enrico E
Publication Date: 2008-08

Variant appearance in text: APC: R187Q
PubMed Link: 18329094
Variant Present in the following documents:
  • Main text
View BVdb publication page