Varaico: Literature-Extracted Genetic Variants

Gene:POLR2A
Variant:p.K1268R
Back to variants list

POLR2A

NM_000937.5:p.K1268R

Associated Papers

Transcription-coupled repair: tangled up in convoluted repair.

Llerena Schiffmacher DA et al.

The Febs Journal, 2025

Transcription-coupled AID deamination damage depends on ELOF1-associated RNA polymerase II.

Dai P et al.

Molecular Cell, 2025

Transcription-coupled repair of DNA-protein crosslinks.

Carnie CJ et al.

Trends in Cell Biology, 2025

Transcription-coupled repair - mechanisms of action, regulation, and associated human disorders.

Nakazawa Y et al.

Febs Letters, 2025

STK19 is a transcription-coupled repair factor that participates in UVSSA ubiquitination and TFIIH loading.

Tan Y et al.

Nucleic Acids Research, 2024

CS proteins and ubiquitination: orchestrating DNA repair with transcription and cell division.

Costanzo F et al.

Trends in Cell Biology, 2024

Endogenous aldehyde-induced DNA-protein crosslinks are resolved by transcription-coupled repair.

Oka Y et al.

Nature Cell Biology, 2024

Transcription-coupled repair of DNA-protein cross-links depends on CSA and CSB.

Carnie CJ et al.

Nature Cell Biology, 2024

Structural basis for RNA polymerase II ubiquitylation and inactivation in transcription-coupled repair.

Kokic G et al.

Nature Structural & Molecular Biology, 2024

ARMC5 controls the degradation of most Pol II subunits, and ARMC5 mutation increases neural tube defect risks in mice and humans.

Luo H et al.

Genome Biology, 2024

ARMC5 is part of an RPB1-specific ubiquitin ligase implicated in adrenal hyperplasia.

Lao L et al.

Nucleic Acids Research, 2022

Polymerases and DNA Repair in Neurons: Implications in Neuronal Survival and Neurodegenerative Diseases.

Li X et al.

Frontiers in Cellular Neuroscience, 2022

Dealing with transcription-blocking DNA damage: Repair mechanisms, RNA polymerase II processing and human disorders.

Jia N et al.

Dna Repair, 2021

Timely upstream events regulating nucleotide excision repair by ubiquitin-proteasome system: ubiquitin guides the way.

Chauhan AK et al.

Dna Repair, 2021

Transcription-Coupled DNA Repair: From Mechanism to Human Disorder.

van den Heuvel D et al.

Trends in Cell Biology, 2021

Ubiquitination of DNA Damage-Stalled RNAPII Promotes Transcription-Coupled Repair.

Nakazawa Y et al.

Cell, 2020

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."