Varaico: Literature-Extracted Genetic Variants

Gene:ATXN3
Variant:p.G306R
Back to variants list

ATXN3

NM_004993.6:p.G306R

Associated Papers

A novel dual histone mark reader ZCWPW2 regulates meiotic recombination through lactylation and transcriptional regulation in humans and mice.

Ruan T et al.

Nucleic Acids Research, 2026

41574437 (PubMed )
Supplement: gkag049_supplemental_files.zip › Table_S6.xlsx › Table_S6

Long-read sequencing identifies ATXN3 repeat expansions, and transcriptomics reveals disease progression biomarkers and druggable targets for spinocerebellar ataxia type 3.

Liu C et al.

Bmc Neurology, 2025

Regional distribution of polymorphisms associated to the disease-causing gene of spinocerebellar ataxia type 3.

Elter TL et al.

Journal of Neurology, 2024

Age-dependent somatic expansion of the ATXN3 CAG repeat in the blood and buccal swab DNA of individuals with spinocerebellar ataxia type 3/Machado-Joseph disease.

Sidky AM et al.

Human Genetics, 2024

Multifocal Organoid Capturing of Colon Cancer Reveals Pervasive Intratumoral Heterogenous Drug Responses.

Kim SC et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2022

34918496 (PubMed )
Supplement: ADVS-9-2103360-s002.xlsx › Table_S2B

Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.

Grunseich C et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2021

34103343 (PubMed )
Supplement: jnnp-2020-325437supp002.pdf

Physiological and pathophysiological characteristics of ataxin-3 isoforms.

Weishäupl D et al.

The Journal of Biological Chemistry, 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."