Varaico: Literature-Extracted Genetic Variants

Gene:ERCC8
Variant:p.Q106P
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ERCC8

NM_000082.4:p.Q106P

Associated Papers

Immunofluorescence studies to dissect the impact of Cockayne syndrome A alterations on the protein interaction and cellular localization.

Ghit A

Journal, Genetic Engineering & Biotechnology, 2021

Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A.

Wang X et al.

Scientific Reports, 2017

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

Laugel V et al.

Human Mutation, 2010

A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage.

Nardo T et al.

Proceedings of the National Academy of Sciences of the United States of America, 2009

A novel splice site mutation in the Cockayne syndrome group A gene in two siblings with Cockayne syndrome.

Kleppa L et al.

Neuroscience, 2007

Cockayne syndrome type A: novel mutations in eight typical patients.

Bertola DR et al.

Journal of Human Genetics, 2006

Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects.

Ridley AJ et al.

Journal of Human Genetics, 2005

CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism.

Cao H et al.

Journal of Human Genetics, 2004

Three novel mutations responsible for Cockayne syndrome group A.

Ren Y et al.

Genes & Genetic Systems, 2003

The role of Cockayne syndrome group A (CSA) protein in transcription-coupled nucleotide excision repair.

Saijo M

Mechanisms of Ageing and Development, 0

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