Varaico: Literature-Extracted Genetic Variants

Gene:ACTB
Variant:p.R147S
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ACTB

NM_001101.5:p.R147S

Associated Papers

Multiscale characterization of Caenorhabditis elegans mutants to probe functional mechanisms of human actin pathological variants.

Hecquet T et al.

Iscience, 2025

The genomic and transcriptomic landscape of metastastic urothelial cancer.

Loriot Y et al.

Nature Communications, 2024

39366934 (PubMed )
Supplement: 41467_2024_52915_MOESM10_ESM.xlsx › SuppTable7_eMIBC-Somatic_alt

Becker's Naevus Syndrome with Breast Aplasia Due to Postzygotic Mutation of ACTB.

Ramspacher J et al.

Acta Dermato-venereologica, 2022

ACTB Mutations Analysis and Genotype-Phenotype Correlation in Becker's Nevus.

Dai S et al.

Biomedicines, 2021

Post-zygotic ACTB mutations underlie congenital smooth muscle hamartomas.

Atzmony L et al.

Journal of Cutaneous Pathology, 2020

Postzygotic Mutations in Beta-Actin Are Associated with Becker's Nevus and Becker's Nevus Syndrome.

Cai ED et al.

The Journal of Investigative Dermatology, 2017

Becker's Nevus and Lethal Beta-Actin Mutations.

Happle R

The Journal of Investigative Dermatology, 2017

Mosaicism in genodermatoses.

Cheraghlou S et al.

Clinics in Dermatology, 0

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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."