Varaico: Literature-Extracted Genetic Variants

Gene:KYNU
Variant:p.F349_Q351delFs
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KYNU

NM_003937.3:p.F349_Q351delFs

Associated Papers

Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.

Corbett RJ et al.

Nature Communications, 2025

41271695 (PubMed )
Supplement: 41467_2025_65190_MOESM6_ESM.xlsx › snv-indel-plp-summary

Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.

Corbett RJ et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

39974082 (PubMed )
Supplement: media-5.xlsx › TableS4A-snv-indel-plp-summary

Germline predisposition in multiple myeloma.

Martins Rodrigues F et al.

Iscience, 2025

39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF

Nicotinamide Adenine Dinucleotide Deficiency and Its Impact on Mammalian Development.

Dunwoodie SL et al.

Antioxidants & Redox Signaling, 2023

NAD+ homeostasis in human health and disease.

Zapata-Pérez R et al.

Embo Molecular Medicine, 2021

A Homozygous Deletion of Exon 5 of KYNU Resulting from a Maternal Chromosome 2 Isodisomy (UPD2) Causes Catel-Manzke-Syndrome/VCRL Syndrome.

Schüle I et al.

Genes, 2021

NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

Shi H et al.

The New England Journal of Medicine, 2017

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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."