Varaico: Literature-Extracted Genetic Variants

Gene:LIPE
Variant:p.R611C
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LIPE

NM_005357.4:p.R611C

Associated Papers

Integrated multi-omics analysis reveals the involvement of the gut-brain axis in children with autism.

Zhong H et al.

Frontiers in Microbiology, 2026

41716284 (PubMed )
Supplement: Supplementary_file_2.xlsx › Table_S1

Case report: First Chinese patient with family partial lipodystrophy type 6 due to novel compound heterozygous mutations in the LIPE gene.

Zhou Y et al.

Frontiers in Genetics, 2024

Whole exome sequencing identifies genetic markers of enterovirus susceptibility in East Asians.

Sung CC et al.

Frontiers in Microbiology, 2024

39234544 (PubMed )
Supplement: Data_Sheet_2.xlsx › worksheet

A missense variant Arg611Cys in LIPE which encodes hormone sensitive lipase decreases lipolysis and increases risk of type 2 diabetes in American Indians.

Muller YL et al.

Diabetes/metabolism Research and Reviews, 2022

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

Identification of 26 novel loci that confer susceptibility to early-onset coronary artery disease in a Japanese population.

Yamada Y et al.

Biomedical Reports, 2018

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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."