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