Varaico: Literature-Extracted Genetic Variants

Gene:KRT8
Variant:p.R341H
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KRT8

NM_002273.4:p.R341H

Associated Papers

The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.

Wang LY et al.

Innovation (cambridge (mass.)), 2025

39991480 (PubMed )
Supplement: mmc5.xlsx › Sheet1

An integrated picture of chronic pancreatitis derived by mapping variants in multiple disease genes onto pathogenic pathways.

Prasad H et al.

Human Molecular Genetics, 2024

Whole exome sequencing and machine learning germline analysis of individuals presenting with extreme phenotypes of high and low risk of developing tobacco-associated lung adenocarcinoma.

Patiño-García A et al.

Ebiomedicine, 2024

38484556 (PubMed )
Supplement: mmc1.xlsx › Supp_Table_2

Acute Liver Failure: Biomarkers Evaluated by the Acute Liver Failure Study Group.

Rakela JL et al.

Clinical and Translational Gastroenterology, 2023

Genetic insight into sick sinus syndrome.

Thorolfsdottir RB et al.

European Heart Journal, 2021

33580673 (PubMed )
Supplement: ehaa1108_supplementary_data.zip › ehaa1108-suppl-data › Revised2_Holm_SSS_Supplementary_Tables.xlsx › S6

Deleterious variants in genes regulating mammalian reproduction in Neanderthals, Denisovans and extant humans.

Greer C et al.

Human Reproduction (oxford, England), 2021

33417716 (PubMed )
Supplement: deaa347_supplementary_data.zip › Suppl_Table_SV_Neand_Shared_Extinct_Revised.pdf

Conservation and Identity Selection of Cationic Residues Flanking the Hydrophobic Regions in Intermediate Filament Superfamily.

Zhang W et al.

Frontiers in Chemistry, 2021

Keratin 8 Mutations Were Associated With Susceptibility to Chronic Hepatitis B and Related Progression.

Ye J et al.

The Journal of Infectious Diseases, 2020

NIPS, a 3D network-integrated predictor of deleterious protein SAPs, and its application in cancer prognosis.

Wang B et al.

Scientific Reports, 2018

29662108 (PubMed )
Supplement: 41598_2018_24286_MOESM1_ESM.pdf

Morphogenetic defects underlie Superior Coloboma, a newly identified closure disorder of the dorsal eye.

Hocking JC et al.

Plos Genetics, 2018

29522511 (PubMed )
Supplement: pgen.1007246.s002.xlsx › Sheet1

Association of keratin 8/18 variants with non-alcoholic fatty liver disease and insulin resistance in Chinese patients: A case-control study.

Li R et al.

World Journal of Gastroenterology, 2017

Human keratin 8 variants promote mouse acetaminophen hepatotoxicity coupled with c-jun amino-terminal kinase activation and protein adduct formation.

Guldiken N et al.

Hepatology (baltimore, Md.), 2015

Prevalence of genetic variants of keratins 8 and 18 in patients with drug-induced liver injury.

Usachov V et al.

Bmc Medicine, 2015

Glucose and SIRT2 reciprocally mediate the regulation of keratin 8 by lysine acetylation.

Snider NT et al.

The Journal of Cell Biology, 2013

Keratin 8 variants are infrequent in patients with alcohol-related liver cirrhosis and do not associate with development of hepatocellular carcinoma.

Usachov V et al.

Bmc Gastroenterology, 2012

Keratin 8 variants are associated with cryptogenic hepatitis.

Zierden M et al.

Virchows Archiv : an International Journal of Pathology, 2012

Non-coding keratin variants associate with liver fibrosis progression in patients with hemochromatosis.

Strnad P et al.

Plos One, 2012

Keratin hypersumoylation alters filament dynamics and is a marker for human liver disease and keratin mutation.

Snider NT et al.

The Journal of Biological Chemistry, 2011

Keratin variants predispose to acute liver failure and adverse outcome: race and ethnic associations.

Strnad P et al.

Gastroenterology, 2010

Keratin variants are overrepresented in primary biliary cirrhosis and associate with disease severity.

Zhong B et al.

Hepatology (baltimore, Md.), 2009

Toward unraveling the complexity of simple epithelial keratins in human disease.

Omary MB et al.

The Journal of Clinical Investigation, 2009

The molecular basis of human keratin disorders.

Arin MJ

Human Genetics, 2009

Keratin variants associate with progression of fibrosis during chronic hepatitis C infection.

Strnad P et al.

Hepatology (baltimore, Md.), 2006

Denaturing temperature selection may underestimate keratin mutation detection by DHPLC.

Strnad P et al.

Human Mutation, 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."