SGK1
serum/glucocorticoid regulated kinase 1
Summary
This gene encodes a serine/threonine protein kinase that plays an important role in cellular stress response. This kinase activates certain potassium, sodium, and chloride channels, suggesting an involvement in the regulation of processes such as cell survival, neuronal excitability, and renal sodium excretion. High levels of expression of this gene may contribute to conditions such as hypertension and diabetic nephropathy. Several alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009]
Known Variants26 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs750204554 | 6:134,491,431 | G/A | — | uncertain significance |
| rs7755303 | 6:134,491,457 | G/A | — | benign |
| rs780541198 | 6:134,491,471 | C/T | — | uncertain significance |
| rs545423314 | 6:134,491,489 | C/T | — | likely benign |
| rs537795008 | 6:134,491,528 | C/G | — | uncertain significance |
| rs754853241 | 6:134,491,531 | C/T | — | uncertain significance |
| rs769365074 | 6:134,491,540 | C/T | — | uncertain significance |
| rs1171390403 | 6:134,491,998 | T/C | — | likely pathogenic |
| rs1582679491 | 6:134,492,178 | C/T | — | uncertain significance |
| rs1057293 | 6:134,493,397 | G/A | synonymous variant | — |
| rs773691115 | 6:134,493,424 | A/C | — | uncertain significance |
| rs770532033 | 6:134,493,857 | T/C | — | uncertain significance |
| rs1743966 | 6:134,493,947 | A/G | regulatory region variant | — |
| rs1299672306 | 6:134,494,223 | G/A | — | uncertain significance |
| rs1223620188 | 6:134,494,661 | G/A | — | uncertain significance |
| rs199923272 | 6:134,495,734 | A/G | — | likely benign |
| rs745871016 | 6:134,496,722 | C/T | — | likely benign |
| rs1763519 | 6:134,518,919 | G/A | — | — |
| rs76822083 | 6:134,521,280 | G/C | regulatory region variant | — |
| rs9493857 | 6:134,530,697 | A/T | — | — |
| rs1763500 | 6:134,544,733 | G/C | — | — |
| rs1009840 | 6:134,546,685 | G/A | intron variant | — |
| rs187235695 | 6:134,554,367 | T/A | intron variant | — |
| rs9493873 | 6:134,576,511 | T/C | upstream gene variant | — |
| rs747213537 | 6:134,583,107 | G/C | — | likely benign |
| rs11755699 | 6:134,599,247 | T/C | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.