TFRC
HGNC:11763 · SaudiVarKB evidence summary derived from retained literature mentions.
6Gene mentions
6Publications
3Linked variants
3Associated phenotypes
Associated phenotypes
Co-mentioned in TFRC publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| diabetes mellitus | — | 1 | 1 |
| developmental delay | HP:0001263 | 1 | 1 |
| infertility | — | 1 | 1 |
Linked variants
Variants normalized to TFRC| Variant | HGVS / rsID | Articles | Mentions |
|---|---|---|---|
| c.58T>C | c.58T>C | 1 | 1 |
| p.Y20H | p.Y20H | 1 | 1 |
| p.Tyr20His | p.Tyr20His | 1 | 1 |
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Not specified | — | 5 | 1 |
Supporting publications
6 records- 2026TFRC Germline Variants and Inborn Error of Immunity: Mechanistic Insights into Iron-Immune Crosstalk.Journal of clinical immunologyPubMed ↗
- 2025Morin hydrate protects against cisplatin-induced testicular toxicity by modulating ferroptosis and steroidogenesis genes' expression and upregulating Nrf2/Heme oxygenase-1.Scientific reportsPubMed ↗
- 2021Hematopoietic Stem Cell Transplantation Is a Curative Therapy for Transferrin Receptor 1 (TFRC) Deficiency.The journal of allergy and clinical immunology. In practicePubMed ↗
- 2020Clinical and Immunological Characterization of Combined Immunodeficiency Due to TFRC Mutation in Eight Patients.Journal of clinical immunologyPubMed ↗
- 2016A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency.Nature geneticsPubMed ↗
- 2014Reference genes for expression studies in hypoxia and hyperglycemia models in human umbilical vein endothelial cells.G3 (Bethesda, Md.)PubMed ↗