MRAP
HGNC:1304 · SaudiVarKB evidence summary derived from retained literature mentions.
5Gene mentions
5Publications
1Linked variants
2Associated phenotypes
Associated phenotypes
Co-mentioned in MRAP publicationsLinked variants
Variants normalized to MRAP| Variant | HGVS / rsID | Articles | Mentions |
|---|---|---|---|
| p.Y59D | p.Y59D | 1 | 1 |
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Saudi Arabia | — | — | 3 |
Supporting publications
5 records- 2026Familial glucocorticoid deficiency due to a novel TXNRD2 variant: expanding the spectrum of a rare genetic cause.Frontiers in endocrinologyPubMed ↗
- 2023Familial Glucocorticoid Deficiency Presenting with Tonic-Clonic Seizure: A Case Report.Children (Basel, Switzerland)PubMed ↗
- 2016A novel role for pigment genes in the stress response in rainbow trout (Oncorhynchus mykiss).Scientific reportsPubMed ↗
- 2013Familial glucocorticoid deficiency: a diagnostic challenge during acute illness.European journal of pediatricsPubMed ↗
- 2009Functional consequence of a novel Y129C mutation in a patient with two contradictory melanocortin-2-receptor mutations.European journal of endocrinologyPubMed ↗