Varaico: Literature-Extracted Genetic Variants

Gene:GCKR
Variant:p.A519T
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GCKR

NM_001486.4:p.A519T

Associated Papers

Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.

Dong W et al.

Journal of Lipid Research, 2022

35460704 (PubMed )
Supplement: mmc1.pdf

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

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

Rees MG et al.

Human Molecular Genetics, 2014

Integrated analysis of germline and somatic variants in ovarian cancer.

Kanchi KL et al.

Nature Communications, 2014

24448499 (PubMed )
Supplement: NIHMS551112-supplement-7.xlsx › S_Data_6

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

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