Varaico: Literature-Extracted Genetic Variants

Gene:ABCC3
Variant:p.R1297H
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ABCC3

NM_003786.4:p.R1297H

Associated Papers

The potential of deep learning on the discovery of new genes implicated in differences of sex development.

von der Decken I et al.

Computational and Structural Biotechnology Journal, 2026

Pharmacogenomics in Orofacial Clefts Care: Insights from Whole-Genome Sequencing of Case-Parents Trios.

Poku-Adusei E et al.

Journal of Personalized Medicine, 2025

Pathogenic germline variants in small cell lung cancer: A systematic review and meta-analysis.

Ul Haq S et al.

Hgg Advances, 2025

40308030 (PubMed )
Supplement: mmc2.xlsx › Table_S3

Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.

Villa M et al.

British Journal of Cancer, 2024

39478125 (PubMed )
Supplement: 41416_2024_2881_MOESM1_ESM.pdf

Effect of donor GSTM3 rs7483 genetic variant on tacrolimus elimination in the early period after liver transplantation.

Zhang T et al.

Peerj, 2024

39465171 (PubMed )
Supplement: peerj-12-18360-s002.7z › drug-metabolizing_enzymes_and_transporter__DMET__microarray › markerlist.xlsx › markerlist.TXT

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

Genetic Variant ABCC1 rs45511401 Is Associated with Increased Response to Statins in Patients with Familial Hypercholesterolemia.

Dagli-Hernandez C et al.

Pharmaceutics, 2022

ABCB1, ABCG2, ABCC1, ABCC2, and ABCC3 drug transporter polymorphisms and their impact on drug bioavailability: what is our current understanding?

Bruckmueller H et al.

Expert Opinion on Drug Metabolism & Toxicology, 2021

Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.

Aboul-Soud MAM et al.

Saudi Journal of Biological Sciences, 2021

33424349 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Exomes of Ductal Luminal Breast Cancer Patients from Southwest Colombia: Gene Mutational Profile and Related Expression Alterations.

Cortes-Urrea C et al.

Biomolecules, 2020

32365829 (PubMed )
Supplement: biomolecules-10-00698-s001.zip › Article-to-BIOMOLECULES_R1_v4Apr2020 › CortesUrreaetal_R1_Supp_Table_S2_339SNPs.xlsx › Tab_S2_339_SNPs_440_alterations

Targeted next generation sequencing as a tool for precision medicine.

Gulilat M et al.

Bmc Medical Genomics, 2019

31159795 (PubMed )
Supplement: 12920_2019_527_MOESM1_ESM.xlsx › Table_S6

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

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › polymorphism

Effect of MRP2 and MRP3 Polymorphisms on Anastrozole Glucuronidation and MRP2 and MRP3 Gene Expression in Normal Liver Samples.

Edavana VK et al.

International Journal of Cancer Research and Molecular Mechanisms, 2015

Polymorphisms of the drug transporters ABCB1, ABCG2, ABCC2 and ABCC3 and their impact on drug bioavailability and clinical relevance.

Bruhn O et al.

Expert Opinion on Drug Metabolism & Toxicology, 2014

Phenotype prediction of non-synonymous single-nucleotide polymorphisms in human ATP-binding cassette transporter genes.

Wang LL et al.

Basic & Clinical Pharmacology & Toxicology, 2011

Functional hot spots in human ATP-binding cassette transporter nucleotide binding domains.

Kelly L et al.

Protein Science : a Publication of the Protein Society, 2010

Polymorphisms in ABCG2, ABCC3 and CNT1 genes and their possible impact on chemotherapy outcome of lung cancer patients.

Müller PJ et al.

International Journal of Cancer, 2009

Functional analysis of nonsynonymous single nucleotide polymorphism type ATP-binding cassette transmembrane transporter subfamily C member 3.

Kobayashi K et al.

Pharmacogenetics and Genomics, 2008

Could polymorphisms in ATP-binding cassette C3/multidrug resistance associated protein 3 (ABCC3/MRP3) modify colorectal cancer risk?

Campa D et al.

European Journal of Cancer (oxford, England : 1990), 2008

Functional analysis of the polymorphism -211C>T in the regulatory region of the human ABCC3 gene.

Gradhand U et al.

Life Sciences, 2007

Implications of genetic polymorphisms in drug transporters for pharmacotherapy.

Kerb R

Cancer Letters, 2006

The relationship between the pharmacology of antiepileptic drugs and human gene variation: an overview.

Ferraro TN et al.

Epilepsy & Behavior : E&b, 2005

Polymorphisms of MRP1 (ABCC1) and related ATP-dependent drug transporters.

Conseil G et al.

Pharmacogenetics and Genomics, 2005

Identification and functional characterization of the natural variant MRP3-Arg1297His of human multidrug resistance protein 3 (MRP3/ABCC3).

Lee YM et al.

Pharmacogenetics, 2004

Genetic polymorphisms in the multidrug resistance-associated protein 3 (ABCC3, MRP3) gene and relationship to its mRNA and protein expression in human liver.

Lang T et al.

Pharmacogenetics, 2004

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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."