Varaico: Literature-Extracted Genetic Variants

Gene:ERCC1
Variant:p.K226*
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ERCC1

NM_001983.4:p.K226*

Associated Papers

A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines.

White SM et al.

European Journal of Human Genetics : Ejhg, 2025

Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy.

Liu J et al.

Nature Genetics, 2025

40664769 (PubMed )
Supplement: 41588_2025_2250_MOESM4_ESM.xlsx › ST6

Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.

Mian A et al.

Bjui Compass, 2023

36816149 (PubMed )
Supplement: BCO2-4-156-s001.xlsx › sTable_1

ERCC1 mutations impede DNA damage repair and cause liver and kidney dysfunction in patients.

Apelt K et al.

The Journal of Experimental Medicine, 2021

Function and Interactions of ERCC1-XPF in DNA Damage Response.

Faridounnia M et al.

Molecules (basel, Switzerland), 2018

Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.

Kashiyama K et al.

American Journal of Human Genetics, 2013

DNA repair endonuclease ERCC1-XPF as a novel therapeutic target to overcome chemoresistance in cancer therapy.

McNeil EM et al.

Nucleic Acids Research, 2012

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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."