Varaico: Literature-Extracted Genetic Variants

Gene:GPIHBP1
Variant:p.S107A
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GPIHBP1

NM_178172.6:p.S107A

Associated Papers

Contemporary Management of Familial and Multifactorial Chylomicronemia Syndromes in Italy: Insights From the National LIPIGEN Registry.

D'Erasmo L et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2025

41099101 (PubMed )
Supplement: atv-45-2264-s001.pdf

Structure of the lipoprotein lipase-GPIHBP1 complex that mediates plasma triglyceride hydrolysis.

Birrane G et al.

Proceedings of the National Academy of Sciences of the United States of America, 2019

30559189 (PubMed )
Supplement: pnas.1817984116.sd01.xlsx › Simple

GPIHBP1 missense mutations often cause multimerization of GPIHBP1 and thereby prevent lipoprotein lipase binding.

Beigneux AP et al.

Circulation Research, 2015

Multimerization of glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 (GPIHBP1) and familial chylomicronemia from a serine-to-cysteine substitution in GPIHBP1 Ly6 domain.

Plengpanich W et al.

The Journal of Biological Chemistry, 2014

Assessing the role of the glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 (GPIHBP1) three-finger domain in binding lipoprotein lipase.

Beigneux AP et al.

The Journal of Biological Chemistry, 2011

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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."