Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.R46L
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INS

NM_000207.3:p.R46L

Associated Papers

Insight into the role of PCSK9 in glucose metabolism.

Xu JN et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2023

Pathogenic gain-of-function mutations in the prodomain and C-terminal domain of PCSK9 inhibit LDL binding.

Sarkar SK et al.

Frontiers in Physiology, 2022

PCSK9: A Multi-Faceted Protein That Is Involved in Cardiovascular Biology.

Sundararaman SS et al.

Biomedicines, 2021

Beyond LDL: What Role for PCSK9 in Triglyceride-Rich Lipoprotein Metabolism?

Dijk W et al.

Trends in Endocrinology and Metabolism: Tem, 2018

Proprotein Convertase Subtilisin-Kexin type-9 (PCSK9) and triglyceride-rich lipoprotein metabolism: Facts and gaps.

Baragetti A et al.

Pharmacological Research, 2018

The anti-adipogenic effect of peripheral blood mononuclear cells is absent with PCSK9 loss-of-function variants.

Gagnon A et al.

Obesity (silver Spring, Md.), 2016

A single residue (arg46) located within the N-terminus of the V1a vasopressin receptor is critical for binding vasopressin but not peptide or nonpeptide antagonists.

Hawtin SR et al.

Molecular Endocrinology (baltimore, Md.), 2002

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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."