Varaico: Literature-Extracted Genetic Variants

Gene:TMC6
Variant:p.Y248*
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TMC6

NM_001127198.5:p.Y248*

Associated Papers

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

Aggressive Squamous Cell Carcinoma in a Case of Epidermodysplasia Verruciformis Carrying a TMC6 Splice-site Mutation.

Yokoi K et al.

Acta Dermato-venereologica, 2023

Identification and Splicing Characterization of Novel TMC6 and TMC8 Variants Associated With Epidermodysplasia Verruciformis in Three Chinese Families.

Wang R et al.

Frontiers in Genetics, 2021

34386043 (PubMed )
Supplement: Data_Sheet_1.docx

Epidermodysplasia verruciformis.

Burger B et al.

Current Problems in Dermatology, 2014

Common variable immunodeficiency syndrome associated with epidermodysplasia verruciformis.

Vu J et al.

American Journal of Clinical Dermatology, 2007

Identification of a novel mutation and a genetic polymorphism of EVER1 gene in two families with epidermodysplasia verruciformis.

Zuo YG et al.

Journal of Dermatological Science, 2006

A homozygous nonsense mutation in the EVER2 gene leads to epidermodysplasia verruciformis.

Sun XK et al.

Clinical and Experimental Dermatology, 2005

Novel mutations of EVER1/TMC6 gene in a Japanese patient with epidermodysplasia verruciformis.

Tate G et al.

Journal of Human Genetics, 2004

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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."