Varaico: Literature-Extracted Genetic Variants

Gene:GCKR
Variant:p.Q234P
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GCKR

NM_001486.4:p.Q234P

Associated Papers

Effects of coding variants in the glucokinase regulatory protein gene on hepatic glucose and triglyceride metabolism suggest a gene regulatory function of glucokinase.

Langer S et al.

Metabolism: Clinical and Experimental, 2025

Genetic basis of hypertriglyceridemia.

Ariza Corbo MJ et al.

Clinica E Investigacion En Arteriosclerosis : Publicacion Oficial De La Sociedad Espanola De Arteriosclerosis, 2024

Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.

Lu X et al.

Nature Genetics, 2017

29083407 (PubMed )
Supplement: NIHMS909133-supplement-2.xlsx › Supplementary_Table_11

Inheritance of rare functional GCKR variants and their contribution to triglyceride levels in families.

Rees MG et al.

Human Molecular Genetics, 2014

Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes.

Rees MG et al.

The Journal of Clinical Investigation, 2012

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease.

Rivas MA et al.

Nature Genetics, 2011

21983784 (PubMed )
Supplement: NIHMS335188-supplement-1.pdf
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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."