Varaico: Literature-Extracted Genetic Variants

Gene:ACTB
Variant:p.E334K
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ACTB

NM_001101.5:p.E334K

Associated Papers

The non-muscle actinopathy-associated mutation E334Q in cytoskeletal γ-actin perturbs interaction of actin filaments with myosin and ADF/cofilin family proteins.

Greve JN et al.

Elife, 2024

Identification of new driver and passenger mutations within APOBEC-induced hotspot mutations in bladder cancer.

Shi MJ et al.

Genome Medicine, 2020

32988402 (PubMed )
Supplement: 13073_2020_781_MOESM2_ESM.xlsx › 112_Potenti_APO-associ_panCa

The genomic landscape of Epstein-Barr virus-associated pulmonary lymphoepithelioma-like carcinoma.

Hong S et al.

Nature Communications, 2019

31311932 (PubMed )
Supplement: 41467_2019_10902_MOESM7_ESM.xlsx › Sheet1

Two classes of intrahepatic cholangiocarcinoma defined by relative abundance of mutations and copy number alterations.

Kim YH et al.

Oncotarget, 2016

27009864 (PubMed )
Supplement: oncotarget-07-23825-s001.pdf

Ubiquitin-proteasome system impairment caused by a missense cardiac myosin-binding protein C mutation and associated with cardiac dysfunction in hypertrophic cardiomyopathy.

Bahrudin U et al.

Journal of Molecular Biology, 2008

The binding of mutant actins to profilin, ATP and DNase I.

Drummond DR et al.

European Journal of Biochemistry, 1992

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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."