Varaico: Literature-Extracted Genetic Variants

Gene:GCKR
Variant:p.R227*
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GCKR

NM_001486.4:p.R227*

Associated Papers

Plasma Metabolic Outliers Identified in Estonian Human Knockouts.

Yu K et al.

Metabolites, 2025

40422899 (PubMed )
Supplement: metabolites-15-00323-s001.zip › TableS2.xlsx › TableSY

Genetic variants identified in novel candidate genes for anorexia nervosa and analysis of molecular pathways for diagnostic applications.

Donato K et al.

European Review for Medical and Pharmacological Sciences, 2023

Liver Involvement in Patients with Rare MBOAT7 Variants and Intellectual Disability: A Case Report and Literature Review.

Ronzoni L et al.

Genes, 2023

Whole genome sequencing identifies genetic variants associated with neurogenic inflammation in rosacea.

Deng Z et al.

Nature Communications, 2023

37402769 (PubMed )
Supplement: 41467_2023_39761_MOESM5_ESM.xlsx › original

Pleiotropic Effects of Common and Rare GCKR Exonic Mutations on Cardiometabolic Traits.

Yeh KH et al.

Genes, 2022

Loss-of-Function CREB3L3 Variants in Patients With Severe Hypertriglyceridemia.

Dron JS et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2020

32580631 (PubMed )
Supplement: atvb_atvb-2020-314168d_supp1.pdf

Genetic Pathways in Nonalcoholic Fatty Liver Disease: Insights From Systems Biology.

Sookoian S et al.

Hepatology (baltimore, Md.), 2020

Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Dron JS et al.

Bmc Medical Genomics, 2020

32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4

An intronic variant in the GCKR gene is associated with multiple lipids.

Fernandes Silva L et al.

Scientific Reports, 2019

A Rare Nonsense Mutation in the Glucokinase Regulator Gene Is Associated With a Rapidly Progressive Clinical Form of Nonalcoholic Steatohepatitis.

Pirola CJ et al.

Hepatology Communications, 2018

Mutations in the glucokinase regulatory protein gene in 2p23 in obese French caucasians.

Veiga-da-Cunha M et al.

Diabetologia, 2003

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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."