SLC31A1
HGNC:11016 · SaudiVarKB evidence summary derived from retained literature mentions.
5Gene mentions
5Publications
2Linked variants
3Associated phenotypes
Associated phenotypes
Co-mentioned in SLC31A1 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| cardiomyopathy | HP:0001638 | 1 | 1 |
| neurodevelopmental disorder | HP:0012759 | 1 | 1 |
| breast cancer | — | 1 | 1 |
Linked variants
Variants normalized to SLC31A1| Variant | HGVS / rsID | Articles | Mentions |
|---|---|---|---|
| p.His120Gln | p.His120Gln | 1 | 1 |
| p.Arg102Cys | p.Arg102Cys | 1 | 1 |
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Not specified | — | 13 | 1 |
Supporting publications
5 records- 2025Copper Chelation by Penicillamine Protects Against Doxorubicin-Induced Cardiomyopathy by Suppressing FDX1-Mediated Cuproptosis.BiomoleculesPubMed ↗
- 2025Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases.Brain communicationsPubMed ↗
- 2025HMGB1/NF-κB Axis, IL-8, and Cuproptosis Contribute to Cisplatin-Induced Testicular Injury: Protective Potential Effect of Thymol.BiomoleculesPubMed ↗
- 2025Cuproptosis Contributes to Cisplatin-Induced Nephrotoxicity: Insights into Thymol's Potential Inhibitory and Protective Effects.Pharmaceuticals (Basel, Switzerland)PubMed ↗
- 2023Elucidating cuproptosis-related gene SLC31A1 diagnostic and prognostic values in cancer.American journal of translational researchPubMed ↗