Varaico: Literature-Extracted Genetic Variants

Gene:ANXA11
Variant:p.R346C
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ANXA11

NM_145868.2:p.R346C

Associated Papers

Annexin A11 mutations are associated with nuclear envelope dysfunction in vivo and in human tissues.

Marchica V et al.

Brain : a Journal of Neurology, 2025

38989900 (PubMed )
Supplement: awae226_supplementary_data.zip › Supplementary_Information.pdf

Decoding Missense Variants by Incorporating Phase Separation via Machine Learning.

Feng M et al.

Nature Communications, 2024

39333476 (PubMed )
Supplement: 41467_2024_52580_MOESM4_ESM.xlsx › impact_ps_mutations

Genetic and in silico analysis of Indian sporadic young onset patient with amyotrophic lateral sclerosis.

Roychowdhury S et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2024

ALS Identified: two-year findings from a sponsored ALS genetic testing program.

Goutman SA et al.

Annals of Clinical and Translational Neurology, 2024

39044379 (PubMed )
Supplement: ACN3-11-2201-s003.xlsx › Novel_variants_

An ANXA11 P93S variant dysregulates TDP-43 and causes corticobasal syndrome.

Snyder A et al.

Research Square, 2023

An atypical ALS with PSP-like symptoms caused by ANXA11 p.D40G mutation: A case report and literature review.

Zhang X et al.

Frontiers in Neurology, 2023

ANXA11 mutations are associated with amyotrophic lateral sclerosis-frontotemporal dementia.

Wang Y et al.

Frontiers in Neurology, 2022

Clinical and genetic characteristics of amyotrophic lateral sclerosis patients with ANXA11 variants.

Sung W et al.

Brain Communications, 2022

A novel splicing variant of ANXA11 in a patient with amyotrophic lateral sclerosis: histologic and biochemical features.

Sainouchi M et al.

Acta Neuropathologica Communications, 2021

Structure of the ALS Mutation Target Annexin A11 Reveals a Stabilising N-Terminal Segment.

Lillebostad PAG et al.

Biomolecules, 2020

RNA Granules Hitchhike on Lysosomes for Long-Distance Transport, Using Annexin A11 as a Molecular Tether.

Liao YC et al.

Cell, 2019

Two rare variants of the ANXA11 gene identified in Chinese patients with amyotrophic lateral sclerosis.

Liu X et al.

Neurobiology of Aging, 2019

ANXA11 mutations prevail in Chinese ALS patients with and without cognitive dementia.

Zhang K et al.

Neurology. Genetics, 2018

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis.

Smith BN et al.

Science Translational Medicine, 2017

Unraveling the multifaceted insights into amyotrophic lateral sclerosis: Genetic underpinnings, pathogenesis, and therapeutic horizons.

Sharma R et al.

Mutation Research. Reviews in Mutation Research, 0

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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."