Varaico: Literature-Extracted Genetic Variants

Gene:UVSSA
Variant:p.K123*
Back to variants list

UVSSA

NM_020894.4:p.K123*

Associated Papers

A Cockayne-Syndrome-Like Phenotype with a Homozygous Truncating UVSSA Variant: Might This Be a New Cause?

Bahap Y et al.

Molecular Syndromology, 2024

A Homozygous Nonsense Variant in UVSSA Causes UV-sensitive Syndrome from Very Large Kindred: The First Report from Iran.

Ahmadi Shadmehri A et al.

Advanced Biomedical Research, 2023

Inhibition of UVSSA ubiquitination suppresses transcription-coupled nucleotide excision repair deficiency caused by dissociation from USP7.

Higa M et al.

The Febs Journal, 2018

UVSSA and USP7, a new couple in transcription-coupled DNA repair.

Schwertman P et al.

Chromosoma, 2013

UVSSA and USP7: new players regulating transcription-coupled nucleotide excision repair in human cells.

Sarasin A

Genome Medicine, 2012

Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair.

Nakazawa Y et al.

Nature Genetics, 2012

Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair.

Zhang X et al.

Nature Genetics, 2012

Transcription-coupled nucleotide excision repair as a determinant of cisplatin sensitivity of human cells.

Furuta T et al.

Cancer Research, 2002

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."