Varaico: Literature-Extracted Genetic Variants

Gene:ACTB
Variant:p.T160A
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ACTB

NM_001101.5:p.T160A

Associated Papers

Hearing Loss in Baraitser-Winter Syndrome: Case Reports and Review of the Literature.

Ghiselli S et al.

Journal of Clinical Medicine, 2024

Identification of a De Novo Heterozygous Missense ACTB Variant in Baraitser-Winter Cerebrofrontofacial Syndrome.

Nie K et al.

Frontiers in Genetics, 2022

Spatially interacting phosphorylation sites and mutations in cancer.

Huang KL et al.

Nature Communications, 2021

33875650 (PubMed )
Supplement: 41467_2021_22481_MOESM4_ESM.xlsx › TableS1.HybridClusters

NECAPs are negative regulators of the AP2 clathrin adaptor complex.

Beacham GM et al.

Elife, 2018

Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Chen F et al.

Nature Communications, 2017

28775315 (PubMed )
Supplement: 41467_2017_289_MOESM7_ESM.xlsx › mutation_data

Cdk2 catalytic activity is essential for meiotic cell division in vivo.

Chauhan S et al.

The Biochemical Journal, 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."