Varaico: Literature-Extracted Genetic Variants

Gene:CYLD
Variant:p.I488delFs
Back to variants list

CYLD

NM_001378743.1:p.I488delFs

Associated Papers

Genetic Testing in CYLD Cutaneous Syndrome: An Update.

Nagy N et al.

The Application of Clinical Genetics, 2021

Phenotype variability in tumor disorders of the skin appendages associated with mutations in the CYLD gene.

Parren LJMT et al.

Archives of Dermatological Research, 2018

Report of Three Novel Germline CYLD Mutations in Unrelated Patients with Brooke-Spiegler Syndrome, Including Classic Phenotype, Multiple Familial Trichoepitheliomas and Malignant Transformation.

Tantcheva-Poór I et al.

Dermatology (basel, Switzerland), 2016

The cylindromatosis (CYLD) gene and head and neck tumorigenesis.

Verhoeft KR et al.

Cancers of the Head & Neck, 2016

Novel and recurrent germline and somatic mutations in a cohort of 67 patients from 48 families with Brooke-Spiegler syndrome including the phenotypic variant of multiple familial trichoepitheliomas and correlation with the histopathologic findings in 379 biopsy specimens.

Grossmann P et al.

The American Journal of Dermatopathology, 2013

A novel missense mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma.

Wang FX et al.

Archives of Dermatological Research, 2010

Tumor mapping in 2 large multigenerational families with CYLD mutations: implications for disease management and tumor induction.

Rajan N et al.

Archives of Dermatology, 2009

Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling.

Blake PW et al.

Human Mutation, 2009

A novel splicing mutation of the CYLD gene in a Taiwanese family with multiple familial trichoepithelioma.

Huang TM et al.

Clinical and Experimental Dermatology, 2009

A novel missense mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma.

Lv HL et al.

Journal of Dermatological Science, 2008

Diverse phenotype of Brooke-Spiegler syndrome associated with a nonsense mutation in the CYLD tumor suppressor gene.

Zhang G et al.

Experimental Dermatology, 2006

CYLD mutation causes multiple familial trichoepithelioma in three Chinese families.

Zheng G et al.

Human Mutation, 2004

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."