ABCC2
HGNC:53 · SaudiVarKB evidence summary derived from retained literature mentions.
11Gene mentions
11Publications
12Linked variants
3Associated phenotypes
Associated phenotypes
Co-mentioned in ABCC2 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| epilepsy | HP:0001250 | 2 | 2 |
| breast cancer | — | 2 | 2 |
| prostate cancer | — | 1 | 1 |
Linked variants
Variants normalized to ABCC2| Variant | HGVS / rsID | Articles | Mentions |
|---|---|---|---|
| c.2273G>T | c.2273G>T | 1 | 1 |
| p.M1393I | p.M1393I | 1 | 1 |
| R930Q | — | 1 | 1 |
| p.G758V | p.G758V | 1 | 1 |
| c.3258+1G>A | c.3258+1G>A | 1 | 1 |
| c.1594G>A | c.1594G>A | 1 | 1 |
| p.Glu532Lys | p.Glu532Lys | 1 | 1 |
| c.2439G>C | c.2439G>C | 1 | 1 |
| p.Lys813Asn | p.Lys813Asn | 1 | 1 |
| rs2273697 | rs2273697 | 1 | 1 |
| rs717620 | rs717620 | 1 | 1 |
| rs1045642 | rs1045642 | 1 | 1 |
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Not specified | — | 533 | 2 |
| Not specified | — | — | 1 |
| Not specified | — | 134 | 1 |
| Not specified | — | 106 | 1 |
| Not specified | — | 296 | 1 |
| Not specified | — | 4,929 | 1 |
Supporting publications
11 records- 2025Association of ATP-binding cassette transporter genomic alterations and expressions with patient survival in breast and prostate cancer.Physiological reportsPubMed ↗
- 2024Cenococcum geophilum impedes cadmium toxicity in Pinus massoniana by modulating nitrogen metabolism.The Science of the total environmentPubMed ↗
- 2024Pharmacogenetic insights into ABCB1, ABCC2, CYP1A2, and CYP2B6 variants with epilepsy susceptibility among Egyptian Children: A retrospective case-control study.International immunopharmacologyPubMed ↗
- 2023Urinary coproporphyrins as a diagnostic biomarker of Dubin-Johnson syndrome in neonates: A diagnostic pathway is proposed.Saudi journal of gastroenterology : official journal of the Saudi Gastroenterology AssociationPubMed ↗
- 2022Clinical characteristics and liver profiles of Dubin-Johnson syndrome in neonates: Multicenter retrospective study.Archives de pediatrie : organe officiel de la Societe francaise de pediatriePubMed ↗
- 2022Case Report: Dubin-Johnson Syndrome Presenting With Infantile Cholestasis: An Overlooked Diagnosis in an Extended Family.Frontiers in pediatricsPubMed ↗
- 2021Characterization of a novel ABCC2 mutation in infantile Dubin Johnson syndrome.Clinica chimica acta; international journal of clinical chemistryPubMed ↗
- 2021Clinical, Biochemical, and Molecular Characterization of Neonatal-Onset Dubin-Johnson Syndrome in a Large Case Series From the Arabs.Frontiers in pediatricsPubMed ↗
- 2019Effects of MTHFR and ABCC2 gene polymorphisms on antiepileptic drug responsiveness in Jordanian epileptic patients.Pharmacogenomics and personalized medicinePubMed ↗
- 2019Role of Four ABC Transporter Genes in Pharmacogenetic Susceptibility to Breast Cancer in Jordanian Patients.Journal of oncologyPubMed ↗
- 2014Toxicogenetics of lopinavir/ritonavir in HIV-infected European patients.Personalized medicinePubMed ↗