Varaico: Literature-Extracted Genetic Variants

Gene:ERCC6
Variant:p.K337*
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ERCC6

NM_000124.4:p.K337*

Associated Papers

Transcription-Coupled Repair Promotes the Retention of Mutations in Coding Regions During Replication Stress.

Zambrano E et al.

International Journal of Molecular Sciences, 2026

Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.

He J et al.

Frontiers in Genetics, 2024

38948361 (PubMed )
Supplement: Table1.XLSX › Sheet1

Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Qin Z et al.

Life Science Alliance, 2022

35595529 (PubMed )
Supplement: LSA-2021-01319_TableS1.xlsx › Sheet_1

Cockayne syndrome group A and ferrochelatase finely tune ribosomal gene transcription and its response to UV irradiation.

Lanzafame M et al.

Nucleic Acids Research, 2021

Elevated pyrimidine dimer formation at distinct genomic bases underlies promoter mutation hotspots in UV-exposed cancers.

Elliott K et al.

Plos Genetics, 2018

30586386 (PubMed )
Supplement: pgen.1007849.s005.pdf

Mutations in TFIIH causing trichothiodystrophy are responsible for defects in ribosomal RNA production and processing.

Nonnekens J et al.

Human Molecular Genetics, 2013

The NER proteins XPC and CSB, but not ERCC1, regulate the sensitivity to the novel DNA binder S23906: implications for recognition and repair of antitumor alkylators.

Rocca CJ et al.

Biochemical Pharmacology, 2010

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

Laugel V et al.

Human Mutation, 2010

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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."