Varaico: Literature-Extracted Genetic Variants

Gene:ERCC4
Variant:p.S786F
Back to variants list

ERCC4

NM_005236.3:p.S786F

Associated Papers

ERCC1-XPF targeting to psoralen-DNA crosslinks depends on XPA and FANCD2.

Sabatella M et al.

Cellular and Molecular Life Sciences : Cmls, 2020

Cryo-EM structures of the XPF-ERCC1 endonuclease reveal how DNA-junction engagement disrupts an auto-inhibited conformation.

Jones M et al.

Nature Communications, 2020

Repair protein persistence at DNA lesions characterizes XPF defect with Cockayne syndrome features.

Sabatella M et al.

Nucleic Acids Research, 2018

Recruitment and positioning determine the specific role of the XPF-ERCC1 endonuclease in interstrand crosslink repair.

Klein Douwel D et al.

The Embo Journal, 2017

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix

Evaluation of rare variants in the new fanconi anemia gene ERCC4 (FANCQ) as familial breast/ovarian cancer susceptibility alleles.

Osorio A et al.

Human Mutation, 2013

Revisiting the structural features of the xeroderma pigmentosum proteins: Focus on mutations and knowledge gaps.

Feltes BC

Mutation Research. Reviews in Mutation Research, 0

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."