Varaico: Literature-Extracted Genetic Variants

Gene:CAMKK2
Variant:p.R311C
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CAMKK2

NM_001270485.2:p.R311C

Associated Papers

CaMKK2 as an emerging treatment target for bipolar disorder.

Kaiser J et al.

Molecular Psychiatry, 2023

Deep exome sequencing identifies enrichment of deleterious mosaic variants in neurodevelopmental disorder genes and mitochondrial tRNA regions in bipolar disorder.

Nishioka M et al.

Molecular Psychiatry, 2023

37248276 (PubMed )
Supplement: 41380_2023_2096_MOESM2_ESM.xlsx › TableS5

Heterozygosity for neuronal ceroid lipofuscinosis predisposes to bipolar disorder.

Privitera F et al.

Revista Brasileira De Psiquiatria (sao Paulo, Brazil : 1999), 2023

35881528 (PubMed )
Supplement: 1516-4446-rbp-1516444620222650-suppl1.pdf

Systematic analysis of exonic germline and postzygotic de novo mutations in bipolar disorder.

Nishioka M et al.

Nature Communications, 2021

34145229 (PubMed )
Supplement: 41467_2021_23453_MOESM4_ESM.xlsx › Supplementary_Data_1

Functional analysis of an R311C variant of Ca2+ -calmodulin-dependent protein kinase kinase-2 (CaMKK2) found as a de novo mutation in a patient with bipolar disorder.

Xy Ling N et al.

Bipolar Disorders, 2020

Effects of Single-Nucleotide Polymorphisms in Calmodulin-Dependent Protein Kinase Kinase 2 (CAMKK2): A Comprehensive Study.

Khalid Z et al.

Computational and Mathematical Methods in Medicine, 2020

Exome sequencing for bipolar disorder points to roles of de novo loss-of-function and protein-altering mutations.

Kataoka M et al.

Molecular Psychiatry, 2016

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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."