Varaico: Literature-Extracted Genetic Variants

Gene:CDK8
Variant:p.R178Q
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CDK8

NM_001260.3:p.R178Q

Associated Papers

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

A precisely positioned MED12 activation helix stimulates CDK8 kinase activity.

Klatt F et al.

Proceedings of the National Academy of Sciences of the United States of America, 2020

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.

Calpena E et al.

American Journal of Human Genetics, 2019

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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."