Varaico: Literature-Extracted Genetic Variants

Gene:GGCX
Variant:p.F299S
Back to variants list

GGCX

NM_000821.7:p.F299S

Associated Papers

Structural and functional insights into γ-glutamyl carboxylase-factor IX interaction: implications for vitamin K-dependent bleeding disorders.

Liu K et al.

Haematologica, 2026

Structural insight into bicarbonate-mediated carboxylation by human vitamin K-dependent carboxylase.

Wu K et al.

Nature Communications, 2025

Structural and Functional Insights into GGCX-FIX Interaction: Implications for Vitamin K-Dependent Bleeding Disorders.

Liu K et al.

Biorxiv : the Preprint Server for Biology, 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

Genome scale analysis of pathogenic variants targetable for single base editing.

Lavrov AV et al.

Bmc Medical Genomics, 2020

32948190 (PubMed )
Supplement: 12920_2020_735_MOESM1_ESM.xlsx › mutations

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_

Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity.

Vanakker OM et al.

The Journal of Investigative Dermatology, 2007

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."