Varaico: Literature-Extracted Genetic Variants

Gene:KCNG1
Variant:p.L394R
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KCNG1

NM_002237.4:p.L394R

Associated Papers

GGCX mutations show different responses to vitamin K thereby determining the severity of the hemorrhagic phenotype in VKCFD1 patients.

Ghosh S et al.

Journal of Thrombosis and Haemostasis : Jth, 2021

Characteristics of recombinant W501S mutated human gamma-glutamyl carboxylase.

Soute BA et al.

Journal of Thrombosis and Haemostasis : Jth, 2004

A conserved region of human vitamin K-dependent carboxylase between residues 393 and 404 is important for its interaction with the glutamate substrate.

Mutucumarana VP et al.

The Journal of Biological Chemistry, 2003

Expression and characterization of the naturally occurring mutation L394R in human gamma-glutamyl carboxylase.

Mutucumarana VP et al.

The Journal of Biological Chemistry, 2000

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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."