Varaico: Literature-Extracted Genetic Variants

Gene:NHEJ1
Variant:p.Y167*
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NHEJ1

NM_024782.3:p.Y167*

Associated Papers

Genetic variants in NHEJ1 and related DNA repair disorders: insights into phenotypic heterogeneity and links to hypoplastic myelodysplastic syndromes and familial hematological malignancies susceptibility.

Elbadry MI et al.

Annals of Hematology, 2025

40047910 (PubMed )
Supplement: 277_2025_6257_MOESM1_ESM.pdf

Mutations in XLF/NHEJ1/Cernunnos gene results in downregulation of telomerase genes expression and telomere shortening.

Carrillo J et al.

Human Molecular Genetics, 2017

XLF deficiency results in reduced N-nucleotide addition during V(D)J recombination.

IJspeert H et al.

Blood, 2016

Cernunnos influences human immunoglobulin class switch recombination and may be associated with B cell lymphomagenesis.

Du L et al.

The Journal of Experimental Medicine, 2012

Cernunnos-XLF, a recently identified non-homologous end-joining factor required for the development of the immune system.

Revy P et al.

Current Opinion in Allergy and Clinical Immunology, 2006

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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."