IP6K1
inositol hexakisphosphate kinase 1
Summary
This gene encodes a member of the inositol phosphokinase family. The encoded protein may be responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also convert 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2011]
Known Variants32 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs11716895 | 3:49,762,779 | C/A | downstream gene variant | — |
| rs767911451 | 3:49,764,724 | C/T | — | uncertain significance |
| rs756964359 | 3:49,764,727 | G/A | — | uncertain significance |
| rs1440606377 | 3:49,764,818 | C/G | — | uncertain significance |
| rs138375827 | 3:49,764,824 | G/A | — | uncertain significance |
| rs1347511431 | 3:49,764,947 | G/C | — | uncertain significance |
| rs2080520485 | 3:49,765,004 | G/A | — | uncertain significance |
| rs34675186 | 3:49,765,557 | G/A | synonymous variant | — |
| rs375665750 | 3:49,765,591 | C/T | — | uncertain significance |
| rs62262721 | 3:49,768,927 | T/C | intron variant | — |
| rs7618501 | 3:49,772,647 | A/G | intron variant | — |
| rs7618519 | 3:49,772,708 | A/G | — | — |
| rs201162462 | 3:49,775,669 | C/G | — | uncertain significance |
| rs111561063 | 3:49,775,736 | G/A | — | uncertain significance |
| rs770036929 | 3:49,775,751 | G/A | — | uncertain significance |
| rs1316605871 | 3:49,775,826 | T/C | — | uncertain significance |
| rs189267161 | 3:49,776,818 | G/A | intron variant | — |
| rs7429338 | 3:49,789,615 | T/A | intron variant | — |
| rs116845431 | 3:49,793,753 | A/G | upstream gene variant | — |
| rs12490656 | 3:49,798,520 | G/T | — | — |
| rs59512581 | 3:49,799,652 | T/C | — | — |
| rs116766128 | 3:49,805,186 | C/T | intron variant | — |
| rs115506546 | 3:49,808,007 | A/G | upstream gene variant | — |
| rs758504714 | 3:49,808,163 | C/T | — | — |
| rs7431106 | 3:49,808,374 | G/A | upstream gene variant | — |
| rs7652179 | 3:49,808,618 | T/A | — | — |
| rs76424424 | 3:49,811,278 | A/G | upstream gene variant | — |
| rs376938854 | 3:49,813,939 | G/C | — | — |
| rs11130221 | 3:49,819,102 | C/G | regulatory region variant | — |
| rs59906301 | 3:49,819,665 | G/A | intron variant | — |
| rs557423533 | 3:49,822,239 | G/A | — | — |
| rs11920900 | 3:49,823,024 | G/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.