Varaico: Literature-Extracted Genetic Variants

Gene:HMGCR
Variant:p.K248R
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HMGCR

NM_000859.3:p.K248R

Associated Papers

Cholesterol sulfate as a negative regulator of cellular cholesterol homeostasis.

Nam LB et al.

Molecules and Cells, 2025

Regulated degradation of HMG CoA reductase requires conformational changes in sterol-sensing domain.

Chen H et al.

Nature Communications, 2022

Enhanced ER-associated degradation of HMG CoA reductase causes embryonic lethality associated with Ubiad1 deficiency.

Jo Y et al.

Elife, 2020

Schnyder corneal dystrophy-associated UBIAD1 inhibits ER-associated degradation of HMG CoA reductase in mice.

Jo Y et al.

Elife, 2019

Isolation of mutant cells lacking Insig-1 through selection with SR-12813, an agent that stimulates degradation of 3-hydroxy-3-methylglutaryl-coenzyme A reductase.

Sever N et al.

The Journal of Biological Chemistry, 2004

Ubiquitin is conjugated by membrane ubiquitin ligase to three sites, including the N terminus, in transmembrane region of mammalian 3-hydroxy-3-methylglutaryl coenzyme A reductase: implications for sterol-regulated enzyme degradation.

Doolman R et al.

The Journal of Biological Chemistry, 2004

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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."