IPPK
inositol-pentakisphosphate 2-kinase
Summary
The protein encoded by this gene is a kinase that phosphorylates position 2 of inositol-1,3,4,5,6-pentakisphosphate to form inositol-1,2,3,4,5,6-hexakisphosphate (InsP6). InsP6 has a variety of functions, including stimulation of DNA repair, endocytosis, and mRNA export. [provided by RefSeq, Nov 2010]
Known Variants32 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs139926387 | 9:95,378,124 | T/C | — | uncertain significance |
| rs1380586300 | 9:95,378,131 | C/T | — | uncertain significance |
| rs764998921 | 9:95,378,146 | C/T | — | uncertain significance |
| rs777372135 | 9:95,378,191 | G/A | — | likely benign |
| rs768887403 | 9:95,378,215 | C/T | — | uncertain significance |
| rs146410819 | 9:95,378,254 | C/T | — | uncertain significance |
| rs768834437 | 9:95,378,320 | C/T | — | uncertain significance |
| rs2490318079 | 9:95,397,446 | T/C | — | uncertain significance |
| rs766665584 | 9:95,397,447 | C/T | — | uncertain significance |
| rs1173441103 | 9:95,397,476 | C/T | — | uncertain significance |
| rs369210321 | 9:95,397,569 | G/A | — | uncertain significance |
| rs7864757 | 9:95,399,865 | T/G | — | — |
| rs754627590 | 9:95,400,291 | C/T | — | uncertain significance |
| rs767327265 | 9:95,400,292 | G/A | — | uncertain significance |
| rs1184989925 | 9:95,400,381 | G/A | — | uncertain significance |
| rs150868938 | 9:95,400,399 | C/T | — | uncertain significance |
| rs1294160143 | 9:95,400,495 | T/A | — | uncertain significance |
| rs185223328 | 9:95,403,542 | C/T | intron variant | — |
| rs1852185944 | 9:95,410,391 | G/A | — | uncertain significance |
| rs1473199693 | 9:95,411,746 | C/T | — | uncertain significance |
| rs201505908 | 9:95,411,757 | G/A | — | uncertain significance |
| rs1852217771 | 9:95,411,791 | T/C | — | uncertain significance |
| rs2490351025 | 9:95,411,847 | C/A | — | uncertain significance |
| rs756608925 | 9:95,414,866 | G/T | — | uncertain significance |
| rs2490364263 | 9:95,418,779 | C/T | — | uncertain significance |
| rs149366566 | 9:95,418,796 | A/G | — | uncertain significance |
| rs144788393 | 9:95,420,930 | G/A | — | uncertain significance |
| rs148572533 | 9:95,420,957 | C/T | — | uncertain significance |
| rs9969804 | 9:95,429,120 | A/C | intron variant | — |
| rs201433639 | 9:95,432,254 | A/G | — | uncertain significance |
| rs10992395 | 9:95,433,844 | T/C | regulatory region variant | — |
| rs12683776 | 9:95,434,401 | G/C | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.