Varaico: Literature-Extracted Genetic Variants

Gene:GYS1
Variant:p.M416V
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GYS1

NM_002103.5:p.M416V

Associated Papers

Population-specific putative causal variants shape quantitative traits.

Koyama S et al.

Nature Genetics, 2024

39363016 (PubMed )
Supplement: 41588_2024_1913_MOESM3_ESM.xlsx › ST8_Missense_PPI___0.1

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.

Chen W et al.

Frontiers in Neurology, 2022

36619910 (PubMed )
Supplement: Data_Sheet_6.ZIP › case2-C › 3.________ › CA2275B________.____Exonic_Variants.xlsx › sheet1

Prediction of genetic risk for metabolic syndrome.

Yamada Y et al.

Atherosclerosis, 2007

Genetic factors for obesity.

Yamada Y et al.

International Journal of Molecular Medicine, 2006

Genetic risk for atherothrombotic cerebral infarction in individuals stratified by sex or conventional risk factors for atherosclerosis.

Yamaguchi S et al.

International Journal of Molecular Medicine, 2006

Assessment of genetic factors for type 2 diabetes mellitus.

Yamada Y et al.

International Journal of Molecular Medicine, 2006

Association of sixty-one non-synonymous polymorphisms in forty-one hypertension candidate genes with blood pressure variation and hypertension.

Kokubo Y et al.

Hypertension Research : Official Journal of the Japanese Society of Hypertension, 2006

Association of muscle glycogen synthase polymorphism with insulin resistance in type 2 diabetic patients.

Motoyama K et al.

Metabolism: Clinical and Experimental, 2003

Association of GYS1 and beta(3)-AR gene with postprandial hyperglycemia and serum uric acid in type 2 diabetes mellitus.

Wang G et al.

Chinese Medical Journal, 2002

[The muscle glycogen synthase gene mutation].

Shimomura H et al.

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2002

The stimulation-induced increase in skeletal muscle glycogen synthase content is impaired in carriers of the glycogen synthase XbaI gene polymorphism.

St-Onge J et al.

Diabetes, 2001

The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes.

Altshuler D et al.

Nature Genetics, 2000

New variants in the glycogen synthase gene (Gln71His, Met416Val) in patients with NIDDM from eastern Finland.

Rissanen J et al.

Diabetologia, 1997

[Glycogen synthase gene].

Shimomura H et al.

Nihon Rinsho. Japanese Journal of Clinical Medicine, 1997

A missense mutation of the muscle glycogen synthase gene (M416V) is associated with insulin resistance in the Japanese population.

Shimomura H et al.

Diabetologia, 1997

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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."