Varaico: Literature-Extracted Genetic Variants

Gene:REEP1
Variant:p.P19L
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REEP1

NM_001371279.1:p.P19L

Associated Papers

REEP1 Accumulation Disrupts ER Integrity and Drives Spinal Motoneuron Degeneration in Distal Hereditary Motor Neuropathy.

Bock A et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2026

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG31

Yop1 stability and membrane curvature generation propensity are controlled by its oligomerisation interface.

Chandran AV et al.

The Biochemical Journal, 2024

The membrane curvature-inducing REEP1-4 proteins generate an ER-derived vesicular compartment.

Shibata Y et al.

Nature Communications, 2024

Screening for REEP1 Mutations in 31 Chinese Hereditary Spastic Paraplegia Families.

Ma X et al.

Frontiers in Neurology, 2020

32655478 (PubMed )
Supplement: Data_Sheet_1.docx

A conserved amphipathic helix is required for membrane tubule formation by Yop1p.

Brady JP et al.

Proceedings of the National Academy of Sciences of the United States of America, 2015

Functional mutation analysis provides evidence for a role of REEP1 in lipid droplet biology.

Falk J et al.

Human Mutation, 2014

REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.

Goizet C et al.

Human Mutation, 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."