Varaico: Literature-Extracted Genetic Variants

Gene:TMC6
Variant:p.A297_G298Splc
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TMC6

NM_001127198.5:p.A297_G298Splc

Associated Papers

Genotype-phenotype correlations and cancer risk in monogenic epidermodysplasia verruciformis.

Biglari S et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2026

A novel EVER1 gene mutation associated with epidermodysplasia verruciformis and multiple cutaneous malignancies.

Kim NY et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2023

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

Yokoi K et al.

Acta Dermato-venereologica, 2023

Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Cong PK et al.

Nature Communications, 2022

35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2

The EVER genes - the genetic etiology of carcinogenesis in epidermodysplasia verruciformis and a possible role in non-epidermodysplasia verruciformis patients.

Kalińska-Bienias A et al.

Postepy Dermatologii I Alergologii, 2016

Epidermodysplasia verruciformis.

Burger B et al.

Current Problems in Dermatology, 2014

Four mutations in Epidermodysplasia verruciformis 1 (EVER1) gene are not contributors to susceptibility in RRP.

Donfack J et al.

International Journal of Pediatric Otorhinolaryngology, 2006

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."