Varaico: Literature-Extracted Genetic Variants

Gene:GGCX
Variant:p.G558R
Back to variants list

GGCX

NM_000821.7:p.G558R

Associated Papers

Clinical, Laboratory, and Molecular Characteristics of Inherited Vitamin K-Dependent Coagulation Factors Deficiency.

Perrone S et al.

Seminars in Thrombosis and Hemostasis, 2025

The Role of GRP and MGP in the Development of Non-Hemorrhagic VKCFD1 Phenotypes.

Ghosh S et al.

International Journal of Molecular Sciences, 2022

GGCX variants leading to biallelic deficiency to γ-carboxylate GRP cause skin laxity in VKCFD1 patients.

Ghosh S et al.

Human Mutation, 2022

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

γ-Glutamyl carboxylase mutations differentially affect the biological function of vitamin K-dependent proteins.

Hao Z et al.

Blood, 2021

Bleeding and non-bleeding phenotypes in patients with GGCX gene mutations.

Watzka M et al.

Thrombosis Research, 2014

Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes.

Li Q et al.

The Journal of Investigative Dermatology, 2009

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII_
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."