Varaico: Literature-Extracted Genetic Variants

Gene:ABCC11
Variant:p.G180R
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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

ABCB1 and ABCC10 polymorphisms predict sensitivity to first- and third-generation EGFR-TKIs in EGFR-mutant NSCLC.

Toda-Shiraga S et al.

Investigational New Drugs, 2025

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

Unraveling the universality of chemical fear communication: evidence from behavioral, genetic, and chemical analyses.

de Groot JHB et al.

Chemical Senses, 2023

Northeastern Asian and Jomon-related genetic structure in the Three Kingdoms period of Gimhae, Korea.

Gelabert P et al.

Current Biology : Cb, 2022

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

Does Genetic Predisposition Contribute to the Exacerbation of COVID-19 Symptoms in Individuals with Comorbidities and Explain the Huge Mortality Disparity between the East and the West?

Yamamoto N et al.

International Journal of Molecular Sciences, 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

Identification of a dysfunctional splicing mutation in the SLC22A12/URAT1 gene causing renal hypouricaemia type 1: a report on two families.

Kawamura Y et al.

Rheumatology (oxford, England), 2020

33011794 (PubMed )
Supplement: keaa461_supplementary_data.docx

The specific biochemistry of human axilla odour formation viewed in an evolutionary context.

Natsch A et al.

Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2020

Ethnogeographic and inter-individual variability of human ABC transporters.

Xiao Q et al.

Human Genetics, 2020

Familial early-onset hyperuricemia and gout associated with a newly identified dysfunctional variant in urate transporter ABCG2.

Toyoda Y et al.

Arthritis Research & Therapy, 2019

31661014 (PubMed )
Supplement: 13075_2019_2007_MOESM1_ESM.docx

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

Szpak M et al.

Febs Letters, 2019

A functional single nucleotide polymorphism in ABCC11, rs17822931, is associated with the risk of breast cancer in Japanese.

Ishiguro J et al.

Carcinogenesis, 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

A Novel Association between the 27-bp Deletion and 538G>A Mutation in the ABCC11 Gene.

Hori YS et al.

Human Biology, 2017

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

A missense variant of the ABCC11 gene is associated with Axillary Osmidrosis susceptibility and clinical phenotypes in the Chinese Han Population.

Ren Y et al.

Scientific Reports, 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

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

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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."