Varaico: Literature-Extracted Genetic Variants

Gene:FBXO31
Variant:p.D334N
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FBXO31

NM_024735.5:p.D334N

Associated Papers

Diagnostic yield of genome sequencing in children with progressive movement disorders.

Schierbaum L et al.

Brain : a Journal of Neurology, 2026

Dystonia: Insights into Mechanisms and Novel Therapeutics.

Dzinovic I et al.

Current Neurology and Neuroscience Reports, 2026

Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.

Zech M et al.

Brain : a Journal of Neurology, 2025

39937650 (PubMed )
Supplement: awaf059_supplementary_data.zip › brain-2024-02450-File011.pdf

C-terminal amides mark proteins for degradation via SCF-FBXO31.

Muhar MF et al.

Nature, 2025

Variant recurrence confirms the existence of a FBXO31-related spastic-dystonic cerebral palsy syndrome.

Dzinovic I et al.

Annals of Clinical and Translational Neurology, 2021

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.

Jin SC et al.

Nature Genetics, 2020

Insights From Genetic Studies of Cerebral Palsy.

Lewis SA et al.

Frontiers in Neurology, 2020

33551980 (PubMed )
Supplement: Table_1.XLSX › variants

Subclonal Genomic Architectures of Primary and Metastatic Colorectal Cancer Based on Intratumoral Genetic Heterogeneity.

Kim TM et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2015

25979483 (PubMed )
Supplement: 10780432ccr142413-sup-138055_2_supp_data_2912019_nlpk8j.pdf
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