Varaico: Literature-Extracted Genetic Variants

Gene:ABCC11
Variant:p.G180R
Back to variants list

ABCC11

NM_001370497.1:p.G180R

Associated Papers

Association of the rs17822931 (538G > A, G180R) in the ABCC11 gene with risk of middle ear cholesteatoma in older adults: a hospital-based case-control study at Heidelberg University Hospital, Germany.

Nakagawa H et al.

European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 2026

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

Interplay of human ABCC11 transporter gene variants with axillary skin microbiome functional genomics.

Stevens BR et al.

Scientific Reports, 2024

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

A case report of neonatal incontinentia pigmenti complicated by severe cerebrovascular lesions in one of the male monozygotic twins.

Lin X et al.

Frontiers in Pediatrics, 2024

38832002 (PubMed )
Supplement: Table1.xlsx › filter_variants

The STROMICS genome study: deep whole-genome sequencing and analysis of 10K Chinese patients with ischemic stroke reveal complex genetic and phenotypic interplay.

Cheng S et al.

Cell Discovery, 2023

37479695 (PubMed )
Supplement: 41421_2023_582_MOESM2_ESM.xlsx › Table_S13

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

Association Between Earwax-Determinant Genotypes and Acquired Middle Ear Cholesteatoma in a Japanese Population.

Hara S et al.

Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-head and Neck Surgery, 2022

Founder genetic variants of ABCC4 and ABCC11 in the Japanese population are not associated with the development of subacute myelo-optico-neuropathy (SMON).

Matsumoto H et al.

Molecular Genetics & Genomic Medicine, 2022

Prioritising positively selected variants in whole-genome sequencing data using FineMAV.

Wahyudi F et al.

Bmc Bioinformatics, 2021

34922440 (PubMed )
Supplement: 12859_2021_4506_MOESM2_ESM.xlsx › 90HC

Admixture with indigenous people helps local adaptation: admixture-enabled selection in Polynesians.

Isshiki M et al.

Bmc Ecology and Evolution, 2021

A synergetic effect of BARD1 mutations on tumorigenesis.

Li W et al.

Nature Communications, 2021

33623049 (PubMed )
Supplement: 41467_2021_21519_MOESM5_ESM.xlsx › sheet1

Role of Genetic Variation in ABC Transporters in Breast Cancer Prognosis and Therapy Response.

Hlaváč V et al.

International Journal of Molecular Sciences, 2020

Ethnogeographic and inter-individual variability of human ABC transporters.

Xiao Q et al.

Human Genetics, 2020

How well do we understand the basis of classic selective sweeps in humans?

Szpak M et al.

Febs Letters, 2019

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

A New Panel-Based Next-Generation Sequencing Method for ADME Genes Reveals Novel Associations of Common and Rare Variants With Expression in a Human Liver Cohort.

Klein K et al.

Frontiers in Genetics, 2019

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

Architecture of polymorphisms in the human genome reveals functionally important and positively selected variants in immune response and drug transporter genes.

Jin Y et al.

Human Genomics, 2018

Genome-wide association study in Japanese females identifies fifteen novel skin-related trait associations.

Endo C et al.

Scientific Reports, 2018

Are human ATP-binding cassette transporter C11 and earwax associated with the incidence of cholesteatoma?

Nakagawa H et al.

Medical Hypotheses, 2018

Evolutionary adaptation revealed by comparative genome analysis of woolly mammoths and elephants.

Smith SD et al.

Dna Research : an International Journal for Rapid Publication of Reports on Genes and Genomes, 2017

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

Hamzic S et al.

The Pharmacogenomics Journal, 2017

Clinical and Molecular Evidence of ABCC11 Protein Expression in Axillary Apocrine Glands of Patients with Axillary Osmidrosis.

Toyoda Y et al.

International Journal of Molecular Sciences, 2017

The fine-scale genetic structure and evolution of the Japanese population.

Takeuchi F et al.

Plos One, 2017

29091727 (PubMed )
Supplement: pone.0185487.s017.xlsx › Table_S7

Genetic Determinants of Nipple Aspiration Fluid Yield.

Shidfar A et al.

Annals of Surgical Oncology, 2016

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

The Effect of Ethnicity on Human Axillary Odorant Production.

Prokop-Prigge KA et al.

Journal of Chemical Ecology, 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

DiMeX: A Text Mining System for Mutation-Disease Association Extraction.

Mahmood AS et al.

Plos One, 2016

27073839 (PubMed )
Supplement: pone.0152725.s001.xlsx › Sheet1

Regulation of the Axillary Osmidrosis-Associated ABCC11 Protein Stability by N-Linked Glycosylation: Effect of Glucose Condition.

Toyoda Y et al.

Plos One, 2016

Association between the ABCC11 gene polymorphism and the expression of apolipoprotein D by the apocrine glands in axillary osmidrosis.

Zhu Z et al.

Molecular Medicine Reports, 2015

Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Ilyas M et al.

Bmc Genomics, 2015

Ethnic/racial and genetic influences on cerumen odorant profiles.

Prokop-Prigge KA et al.

Journal of Chemical Ecology, 2015

Functional characterisation of a SNP in the ABCC11 allele - effects on axillary skin metabolism, odour generation and associated behaviours.

Harker M et al.

Journal of Dermatological Science, 2014

Dependence of deodorant usage on ABCC11 genotype: scope for personalized genetics in personal hygiene.

Rodriguez S et al.

The Journal of Investigative Dermatology, 2013

Genomics of ADME gene expression: mapping expression quantitative trait loci relevant for absorption, distribution, metabolism and excretion of drugs in human liver.

Schröder A et al.

The Pharmacogenomics Journal, 2013

22006096 (PubMed )
Supplement: tpj201144x7.doc

Comprehensive characterization of human genome variation by high coverage whole-genome sequencing of forty four Caucasians.

Shen H et al.

Plos One, 2013

23577066 (PubMed )
Supplement: pone.0059494.s008.pdf

Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.

O'Rawe JA et al.

Peerj, 2013

24109560 (PubMed )
Supplement: peerj-01-177-s008.xlsx › all_omim_evidence_point7_omicia

Pharmacogenetics of human ABC transporter ABCC11: new insights into apocrine gland growth and metabolite secretion.

Ishikawa T et al.

Frontiers in Genetics, 2012

The earwax-associated SNP c.538G>A (G180R) in ABCC11 is not associated with breast cancer risk in Europeans.

Lang T et al.

Breast Cancer Research and Treatment, 2011

Ubiquitin-mediated proteasomal degradation of ABC transporters: a new aspect of genetic polymorphisms and clinical impacts.

Nakagawa H et al.

Journal of Pharmaceutical Sciences, 2011

No evidence for an association between the earwax-associated polymorphism in ABCC11 and breast cancer risk in Caucasian women.

Beesley J et al.

Breast Cancer Research and Treatment, 2011

The impact of natural selection on an ABCC11 SNP determining earwax type.

Ohashi J et al.

Molecular Biology and Evolution, 2011

1–50 of 57 papers
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."