Varaico: Literature-Extracted Genetic Variants

Gene:ACTB
Variant:p.R147C
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ACTB

NM_001101.5:p.R147C

Associated Papers

A Pediatric Case of Becker Nevus Syndrome With Limb Overgrowth and Microvascular Malformation Associated With a Post-Zygotic ACTB Variant.

Zhu J et al.

International Journal of Dermatology, 2026

Genetic and immunohistochemical studies identify recurrent ACTB mutations and PTEN alterations in tubular adenomas of the breast.

Ingyin H et al.

Histopathology, 2025

Benign fibro-osseous lesions of the cranio-maxillofacial bones: an updated review with special emphasis on molecular pathogenesis.

Pandiar D et al.

Journal of Bone and Mineral Metabolism, 2025

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

Dermatological signs lead to discovery of mosaic ACTB variants in segmental odontomaxillary dysplasia.

Polubothu S et al.

The British Journal of Dermatology, 2020

Post-zygotic ACTB mutations underlie congenital smooth muscle hamartomas.

Atzmony L et al.

Journal of Cutaneous Pathology, 2020

Multilineage ACTB mutation in a patient with fibro-osseous maxillary lesion and pilocytic astrocytoma.

Lim YH et al.

American Journal of Medical Genetics. Part A, 2018

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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