Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.K150del1
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APC

NM_000038.6:p.K150del1

Associated Papers

Supplementary research on K150del variant of activated protein C.

Lin WY et al.

Aging, 2021

C-terminal residues of activated protein C light chain contribute to its anticoagulant and cytoprotective activities.

Yamashita A et al.

Journal of Thrombosis and Haemostasis : Jth, 2020

Gly74Ser mutation in protein C causes thrombosis due to a defect in protein S-dependent anticoagulant function.

Chen C et al.

Thrombosis and Haemostasis, 2017

Protein C Thr315Ala variant results in gain of function but manifests as type II deficiency in diagnostic assays.

Ding Q et al.

Blood, 2015

Neurotoxicity of the anticoagulant-selective E149A-activated protein C variant after focal ischemic stroke in mice.

Wang Y et al.

Blood Cells, Molecules & Diseases, 2013

Expression and functional characterisation of natural R147W and K150del variants of protein C in the Chinese population.

Ding Q et al.

Thrombosis and Haemostasis, 2013

Novel association of a PROC variant with ischemic stroke in a Chinese Han population.

Lu X et al.

Human Genetics, 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."