Varaico: Literature-Extracted Genetic Variants

Gene:ERLIN1
Variant:p.Q168_A169Splc
Back to variants list

ERLIN1

NM_006459.4:p.Q168_A169Splc

Associated Papers

ERLIN1: A central regulator of protein quality control, lipid homeostasis, and cellular signaling at the endoplasmic reticulum.

Cho H et al.

Cellular Signalling, 2026

Expanding the Phenotypic Spectrum of ERLIN1-Related SPG62: Report of Two Siblings With Behavioral Features and Hyperacusis.

Ozkose GS et al.

Clinical Genetics, 2026

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG62

Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis.

Cogan G et al.

Human Genetics, 2024

A novel homozygous mutation in ERLIN1 gene causing spastic paraplegia 62 and literature review.

Zhu ZY et al.

European Journal of Medical Genetics, 2022

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."