Varaico: Literature-Extracted Genetic Variants

Gene:GCKR
Variant:p.H590Y
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GCKR

NM_001486.4:p.H590Y

Associated Papers

Genomic classification of benign adrenocortical lesions.

Faillot S et al.

Endocrine-related Cancer, 2021

33151900 (PubMed )
Supplement: supplementary_table_3.xlsx › Sup3__Somatic_mutations_Exome_

Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death.

Bagnall RD et al.

Bmc Medical Genetics, 2014

25224718 (PubMed )
Supplement: 12881_2014_99_MOESM2_ESM.xlsx › Supplementary_Table_2

LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias.

Johansen CT et al.

Journal of Lipid Research, 2014

24503134 (PubMed )
Supplement: supp_D045963_jlr.D045963-1.pdf

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

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."