Varaico: Literature-Extracted Genetic Variants

Gene:CSNK2A1
Variant:p.R47G
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CSNK2A1

NM_177559.3:p.R47G

Associated Papers

OCNDS core features are conserved across variants, with loop-region mutations driving greater symptom burden.

Bagatelas ED et al.

Frontiers in Human Neuroscience, 2025

Autism spectrum disorder and various mechanisms behind it.

Rajabi P et al.

Pharmacology, Biochemistry, and Behavior, 2024

Are transient protein-protein interactions more dispensable?

Ghadie MA et al.

Plos Computational Biology, 2022

35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _B__Y2H-SI_disMut_edgotypes

Comparing Two Neurodevelopmental Disorders Linked to CK2: Okur-Chung Neurodevelopmental Syndrome and Poirier-Bienvenu Neurodevelopmental Syndrome-Two Sides of the Same Coin?

Ballardin D et al.

Frontiers in Molecular Biosciences, 2022

Predictive functional, statistical and structural analysis of CSNK2A1 and CSNK2B variants linked to neurodevelopmental diseases.

Unni P et al.

Frontiers in Molecular Biosciences, 2022

Okur-Chung neurodevelopmental syndrome-linked CK2α variants have reduced kinase activity.

Dominguez I et al.

Human Genetics, 2021

Mutation Edgotype Drives Fitness Effect in Human.

Ghadie M et al.

Frontiers in Bioinformatics, 2021

36303776 (PubMed )
Supplement: Table2.XLSX › _B__Y2H-SI_pathMt_edgotype

Estimating dispensable content in the human interactome.

Ghadie M et al.

Nature Communications, 2019

31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut
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