Varaico: Literature-Extracted Genetic Variants

Gene:SIGMAR1
Variant:p.F83L
Back to variants list

SIGMAR1

NM_005866.4:p.F83L

Associated Papers

SIGMAR1 gene-related neuromuscular disorders - what do we know?

Kalita M et al.

Neurologia I Neurochirurgia Polska, 2025

SIGMAR1 targets AMPK/ULK1 pathway to inhibit SH-SY5Y cell apoptosis by regulating endoplasmic reticulum stress and autophagy.

Kong M et al.

Functional & Integrative Genomics, 2024

Sigmar1's Molecular, Cellular, and Biological Functions in Regulating Cellular Pathophysiology.

Aishwarya R et al.

Frontiers in Physiology, 2021

Mutations in the SIGMAR1 gene cause a distal hereditary motor neuropathy phenotype mimicking ALS: Report of two novel variants.

Ma MT et al.

Neuromuscular Disorders : Nmd, 2020

Novel missense alleles of SIGMAR1 as tools to understand emerin-dependent gene silencing in response to cocaine.

Arun AS et al.

Experimental Biology and Medicine (maywood, N.j.), 2019

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."