Varaico: Literature-Extracted Genetic Variants

Gene:PRKAG1
Variant:p.R70Q
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PRKAG1

NM_002733.5:p.R70Q

Associated Papers

Evolutionary history of adenomas to colorectal cancer in FAP families.

Yang C et al.

Frontiers in Genetics, 2024

39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 2017-2279B4.xls › SNVIndel

Effects of Single-Nucleotide Polymorphisms in Calmodulin-Dependent Protein Kinase Kinase 2 (CAMKK2): A Comprehensive Study.

Khalid Z et al.

Computational and Mathematical Methods in Medicine, 2020

33082841 (PubMed )
Supplement: 7419512.f1.zip › Table_S4.xlsx › Meta-SNP

Contribution of allelic imbalance to colorectal cancer.

Palin K et al.

Nature Communications, 2018

30202008 (PubMed )
Supplement: 41467_2018_6132_MOESM11_ESM.xlsx › Somatic_mutations_in_234_MSS_CR

Molecular Pathogenesis of Familial Wolff-Parkinson-White Syndrome.

Miyamoto L

The Journal of Medical Investigation : Jmi, 2018

Phase II Pilot Study of Vemurafenib in Patients With Metastatic BRAF-Mutated Colorectal Cancer.

Kopetz S et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2015

26460303 (PubMed )
Supplement: supp_33.34.4032_DS_2015.632497.pdf

Conjunctival melanomas harbor BRAF and NRAS mutations and copy number changes similar to cutaneous and mucosal melanomas.

Griewank KG et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2013

23633454 (PubMed )
Supplement: 10780432ccr130163-sup-tab1-3.pdf

Autophagy limits the cytotoxic effects of the AKT inhibitor AZ7328 in human bladder cancer cells.

Dickstein RJ et al.

Cancer Biology & Therapy, 2012

Distinct early signaling events resulting from the expression of the PRKAG2 R302Q mutant of AMPK contribute to increased myocardial glycogen.

Folmes KD et al.

Circulation. Cardiovascular Genetics, 2009

The AMPK gamma1 R70Q mutant regulates multiple metabolic and growth pathways in neonatal cardiac myocytes.

Folmes KD et al.

American Journal of Physiology. Heart and Circulatory Physiology, 2007

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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."