Varaico: Literature-Extracted Genetic Variants

Gene:HNRNPA1
Variant:p.P340A
Back to variants list

HNRNPA1

NM_031157.4:p.P340A

Associated Papers

A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.

Arreola-Aldape CA et al.

Frontiers in Neuroscience, 2025

40589786 (PubMed )
Supplement: Table_4.xlsx › ClinVar_filtered_variants

Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathy.

Turner J et al.

Muscle & Nerve, 2024

Nuclear-import receptors as gatekeepers of pathological phase transitions in ALS/FTD.

Khalil B et al.

Molecular Neurodegeneration, 2024

Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation.

Beijer D et al.

Jci Insight, 2021

A Comprehensive Analysis of the Role of hnRNP A1 Function and Dysfunction in the Pathogenesis of Neurodegenerative Disease.

Clarke JP et al.

Frontiers in Molecular Biosciences, 2021

Molecular epidemiological study of familial amyotrophic lateral sclerosis in Japanese population by whole-exome sequencing and identification of novel HNRNPA1 mutation.

Naruse H et al.

Neurobiology of Aging, 2018

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."