Varaico: Literature-Extracted Genetic Variants

Gene:ATXN3
Variant:p.V212M
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ATXN3

NM_004993.6:p.V212M

Associated Papers

Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.

Kuras M et al.

Cancers, 2025

40075679 (PubMed )
Supplement: cancers-17-00832-s001.zip › Table_S5._SAAVs.xlsx › Table_S5A

A Novel Mutation in Sacsin, p.Val1335IIe, May Cause Late-Onset Sacsinopathy Due to Haploinsufficiency.

Kim D et al.

Current Issues in Molecular Biology, 2023

38132465 (PubMed )
Supplement: cimb-45-00619-s001.zip › cimb-2765337-supplementary.pdf

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-s007.xlsx › Table_S3C

Physiological and pathophysiological characteristics of ataxin-3 isoforms.

Weishäupl D et al.

The Journal of Biological Chemistry, 2019

Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.

Witkiewicz AK et al.

Nature Communications, 2015

25855536 (PubMed )
Supplement: ncomms7744-s2.xlsx › MUTATIONS_ALL_CASES

Transcript diversity of Machado-Joseph disease gene (ATXN3) is not directly determined by SNPs in exonic or flanking intronic regions.

Bettencourt C et al.

Journal of Molecular Neuroscience : Mn, 2013

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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."