Varaico: Literature-Extracted Genetic Variants

Gene:HMGCR
Variant:p.I638V
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HMGCR

NM_000859.3:p.I638V

Associated Papers

HMGCR genetic variability in Parkinson's disease in a Spanish cohort: associations with lipid metabolism and early onset.

Díaz-Belloso R et al.

Journal of Neurology, 2025

Statins for polycystic ovary syndrome in varying resource settings: a phenome-wide association study and evidence synthesis.

Zahn LA et al.

Frontiers in Pharmacology, 2025

Genetics of Familial Combined Hyperlipidemia (FCHL) Disorder: An Update.

Taghizadeh E et al.

Biochemical Genetics, 2022

Leveraging Human Genetics to Identify Safety Signals Prior to Drug Marketing Approval and Clinical Use.

Jerome RN et al.

Drug Safety, 2020

Coding-sequence variants are associated with blood lipid levels in 14,473 Chinese.

Lu X et al.

Human Molecular Genetics, 2016

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt

Structural and energetic analyses of SNPs in drug targets and implications for drug therapy.

Sun HY et al.

Journal of Chemical Information and Modeling, 2013

24304102 (PubMed )
Supplement: ci400457v_si_001.xls › Sheet1

Functional non-synonymous polymorphisms prediction methods: current approaches and future developments.

González-Castejón M et al.

Current Medicinal Chemistry, 2011

Common SNPs in HMGCR in micronesians and whites associated with LDL-cholesterol levels affect alternative splicing of exon13.

Burkhardt R et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2008

Pharmacogenetic study of statin therapy and cholesterol reduction.

Chasman DI et al.

Jama, 2004

Sequence diversity in genes of lipid metabolism.

Garcia CK et al.

Genome Research, 2001

SNPs, protein structure, and disease.

Wang Z et al.

Human Mutation, 2001

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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."