Varaico: Literature-Extracted Genetic Variants

Gene:NAT8
Variant:p.F143S
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NAT8

NM_003960.4:p.F143S

Associated Papers

Integration of metabolomic and genetic data reveals novel variants underpinning the human metabolome: the Coronary Artery Risk Development in Young Adults (CARDIA) study.

Krishnan M et al.

Medrxiv : the Preprint Server for Health Sciences, 2026

41646814 (PubMed )
Supplement: media-2.xlsx › Table_S4

Genetic variants affecting mitochondrial function provide further insights for kidney disease.

Cañadas-Garre M et al.

Bmc Genomics, 2024

Somatic mutations reveal hyperactive Notch signaling and racial disparities in prurigo nodularis.

Rajeh A et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37808834 (PubMed )
Supplement: media-2.xlsx › pnSomatic_supplement_tableS2

Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.

Bateman NW et al.

Iscience, 2022

35036865 (PubMed )
Supplement: mmc2.xlsx › SupplementalTable1A

Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Sebate B et al.

Plos One, 2021

33770142 (PubMed )
Supplement: pone.0249324.s003.xlsx › _8773__III-7_

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Fragoza R et al.

Nature Communications, 2019

31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM11_ESM.xlsx › SD7_-_Drug_Targets

Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.

Graham SE et al.

Nature Communications, 2019

31015462 (PubMed )
Supplement: 41467_2019_9861_MOESM1_ESM.pdf

Whole-exome sequencing identifies common and rare variant metabolic QTLs in a Middle Eastern population.

Yousri NA et al.

Nature Communications, 2018

Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.

Witkiewicz AK et al.

Nature Communications, 2015

25855536 (PubMed )
Supplement: ncomms7744-s2.xlsx › MUTATIONS_ALL_CASES

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A2-A04Y-01A.domain

Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.

Yu B et al.

Genetic Epidemiology, 2013

A genome-wide metabolic QTL analysis in Europeans implicates two loci shaped by recent positive selection.

Nicholson G et al.

Plos Genetics, 2011

Molecular identification of NAT8 as the enzyme that acetylates cysteine S-conjugates to mercapturic acids.

Veiga-da-Cunha M et al.

The Journal of Biological Chemistry, 2010

Genetic loci influencing kidney function and chronic kidney disease.

Chambers JC et al.

Nature Genetics, 2010

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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."