PSKH1
protein serine kinase H1
Summary
Enables protein serine/threonine kinase activity. Predicted to be involved in chromatin remodeling. Predicted to act upstream of or within determination of left/right symmetry; heart development; and protein phosphorylation. Located in several cellular components, including cilium; cytosol; and nuclear speck. [provided by Alliance of Genome Resources, Apr 2025]
Known Variants31 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs73594556 | 16:67,925,435 | G/A | upstream gene variant | — |
| rs16942887 | 16:67,928,042 | G/A | regulatory region variant | — |
| rs55781197 | 16:67,940,350 | A/T | — | — |
| rs1250866121 | 16:67,942,673 | G/C | — | uncertain significance |
| rs777211025 | 16:67,942,693 | A/G | — | uncertain significance |
| rs138557834 | 16:67,942,698 | G/A | — | uncertain significance |
| rs762038809 | 16:67,942,752 | G/A | — | uncertain significance |
| rs372174162 | 16:67,942,825 | A/G | — | uncertain significance |
| rs139742716 | 16:67,942,842 | G/A | — | likely benign |
| rs2544379399 | 16:67,942,846 | C/T | — | uncertain significance |
| rs751254936 | 16:67,942,887 | C/T | — | uncertain significance |
| rs936187440 | 16:67,942,909 | A/G | — | uncertain significance |
| rs1462044574 | 16:67,943,061 | C/T | — | uncertain significance |
| rs2544379814 | 16:67,943,148 | G/A | — | uncertain significance |
| rs188443669 | 16:67,943,225 | C/T | — | likely benign |
| rs770694440 | 16:67,943,272 | G/A | — | uncertain significance |
| rs143148420 | 16:67,943,388 | C/G | — | uncertain significance |
| rs748685487 | 16:67,943,463 | C/T | — | uncertain significance |
| rs35552721 | 16:67,943,554 | A/G | — | uncertain significance |
| rs1279451077 | 16:67,943,563 | G/A | — | uncertain significance |
| rs776952921 | 16:67,943,572 | G/A | — | uncertain significance |
| rs769949236 | 16:67,943,583 | A/G | — | uncertain significance |
| rs767617738 | 16:67,943,595 | A/G | — | uncertain significance |
| rs113563886 | 16:67,947,158 | T/C | intron variant | — |
| rs73594581 | 16:67,955,554 | G/A | intron variant | — |
| rs1236153522 | 16:67,961,342 | A/C | — | uncertain significance |
| rs754320519 | 16:67,961,483 | C/T | — | uncertain significance |
| rs755212982 | 16:67,961,484 | G/A | — | uncertain significance |
| rs748229359 | 16:67,961,489 | C/T | — | uncertain significance |
| rs146152043 | 16:67,961,495 | C/T | — | uncertain significance |
| rs745748731 | 16:67,961,505 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.