Varaico: Literature-Extracted Genetic Variants

Gene:ABCC11
Variant:p.T546M
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ABCC11

NM_001370497.1:p.T546M

Associated Papers

Functional characterization of variants in human ABCC11, an axillary osmidrosis risk factor.

Toyoda Y et al.

Human Cell, 2024

APF2: an improved ensemble method for pharmacogenomic variant effect prediction.

Zhou Y et al.

The Pharmacogenomics Journal, 2024

38802404 (PubMed )
Supplement: 41397_2024_338_MOESM2_ESM.xlsx › Sheet1

Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Cukier HN et al.

Npj Parkinson's Disease, 2022

35768426 (PubMed )
Supplement: 41531_2022_346_MOESM2_ESM.xlsx › SupTab1

Whole-exome sequencing expands the roles of novel mutations of organic anion transporting polypeptide, ATP-binding cassette transporter, and receptor genes in intrahepatic cholestasis of pregnancy.

Liu X et al.

Frontiers in Genetics, 2022

36046230 (PubMed )
Supplement: Table3.XLSX › Sheet1

The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Punta M et al.

Frontiers in Immunology, 2020

33133066 (PubMed )
Supplement: Table_1.xlsx › Germline_SNPs

An optimized prediction framework to assess the functional impact of pharmacogenetic variants.

Zhou Y et al.

The Pharmacogenomics Journal, 2019

30206299 (PubMed )
Supplement: 41397_2018_44_MOESM5_ESM.xlsx › Sheet1

ATP-Binding Cassette Transporters in the Clinical Implementation of Pharmacogenetics.

López-Fernández LA

Journal of Personalized Medicine, 2018

30563187 (PubMed )
Supplement: jpm-08-00040-s001.xlsx › Hoja1

The impact of ABCC11 polymorphisms on the risk of early-onset fluoropyrimidine toxicity.

Hamzic S et al.

The Pharmacogenomics Journal, 2017

The New Immortalized Uroepithelial Cell Line HBLAK Contains Defined Genetic Aberrations Typical of Early Stage Urothelial Tumors.

Hoffmann MJ et al.

Bladder Cancer (amsterdam, Netherlands), 2016

28035326 (PubMed )
Supplement: blc-2-blc160065-s001.xlsx › 2_HBLAK_relevant_SNPs

Functional characterization of common protein variants in the efflux transporter ABCC11 and identification of T546M as functionally damaging variant.

Arlanov R et al.

The Pharmacogenomics Journal, 2016

Diagnosis of Human Axillary Osmidrosis by Genotyping of the Human ABCC11 Gene: Clinical Practice and Basic Scientific Evidence.

Toyoda Y et al.

Biomed Research International, 2016

XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Talukder AK et al.

Plos One, 2015

25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC3_ERR166307

ABCC11/MRP8 polymorphisms affect 5-fluorouracil-induced severe toxicity and hepatic expression.

Magdy T et al.

Pharmacogenomics, 2013

Earwax, osmidrosis, and breast cancer: why does one SNP (538G>A) in the human ABC transporter ABCC11 gene determine earwax type?

Toyoda Y et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2009

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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."