ITPKB
inositol-trisphosphate 3-kinase B
Summary
The protein encoded by this protein regulates inositol phosphate metabolism by phosphorylation of second messenger inositol 1,4,5-trisphosphate to Ins(1,3,4,5)P4. The activity of this encoded protein is responsible for regulating the levels of a large number of inositol polyphosphates that are important in cellular signaling. Both calcium/calmodulin and protein phosphorylation mechanisms control its activity. [provided by RefSeq, Jul 2008]
Known Variants74 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs41268733 | 1:226,822,380 | G/C | — | likely benign |
| rs148881608 | 1:226,822,473 | C/T | — | uncertain significance |
| rs2464732914 | 1:226,822,497 | C/G | — | uncertain significance |
| rs138300662 | 1:226,822,525 | G/A | — | likely benign |
| rs56317152 | 1:226,822,573 | G/C | — | likely benign |
| rs1151804 | 1:226,824,217 | C/T | intron variant | — |
| rs2236604 | 1:226,825,341 | A/G | — | benign |
| rs1668867787 | 1:226,825,418 | T/C | — | likely benign |
| rs767646058 | 1:226,829,750 | C/T | — | uncertain significance |
| rs140588026 | 1:226,829,804 | T/C | — | uncertain significance |
| rs779540406 | 1:226,834,988 | C/T | — | likely benign |
| rs1336927158 | 1:226,836,376 | C/T | — | uncertain significance |
| rs10916025 | 1:226,855,889 | G/C | upstream gene variant | — |
| rs1289273 | 1:226,909,233 | A/C | — | — |
| rs4653767 | 1:226,916,078 | T/C | intron variant | — |
| rs773178904 | 1:226,923,253 | G/A | — | uncertain significance |
| rs1209803610 | 1:226,923,254 | T/C | — | uncertain significance |
| rs708775 | 1:226,923,264 | G/A | — | benign |
| rs1261747272 | 1:226,923,328 | G/A | — | uncertain significance |
| rs143130106 | 1:226,923,343 | G/A | — | uncertain significance |
| rs2464943244 | 1:226,923,361 | G/A | — | uncertain significance |
| rs55822534 | 1:226,923,384 | G/A | — | benign |
| rs141636221 | 1:226,923,385 | T/C | — | likely benign |
| rs548041016 | 1:226,923,392 | G/A | — | uncertain significance |
| rs56095953 | 1:226,923,396 | G/A | — | benign |
| rs1435590368 | 1:226,923,457 | G/A | — | uncertain significance |
| rs708776 | 1:226,923,505 | T/G | — | benign |
| rs751661834 | 1:226,923,514 | G/C | — | uncertain significance |
| rs149543375 | 1:226,923,526 | G/A | — | uncertain significance |
| rs755872666 | 1:226,923,545 | T/A | — | uncertain significance |
| rs775979938 | 1:226,923,596 | G/A | — | likely benign |
| rs2464944738 | 1:226,923,721 | G/A | — | uncertain significance |
| rs780653192 | 1:226,923,746 | A/C | — | uncertain significance |
| rs997584012 | 1:226,923,763 | A/G | — | uncertain significance |
| rs1657746399 | 1:226,923,787 | G/A | — | uncertain significance |
| rs1048888287 | 1:226,923,880 | C/G | — | uncertain significance |
| rs201162163 | 1:226,923,887 | C/T | — | uncertain significance |
| rs530318369 | 1:226,923,899 | C/T | — | uncertain significance |
| rs768287698 | 1:226,923,916 | G/T | — | uncertain significance |
| rs6667260 | 1:226,923,938 | A/C | — | benign |
| rs569859868 | 1:226,923,989 | T/C | — | likely benign |
| rs2464946276 | 1:226,924,027 | G/A | — | uncertain significance |
| rs371265531 | 1:226,924,075 | C/T | — | uncertain significance |
| rs199795545 | 1:226,924,133 | C/T | — | uncertain significance |
| rs748048875 | 1:226,924,168 | C/A | — | uncertain significance |
| rs967186920 | 1:226,924,181 | A/G | — | uncertain significance |
| rs3754413 | 1:226,924,196 | C/T | — | conflicting classifications of pathogenicity |
| rs35957083 | 1:226,924,201 | T/G | — | likely benign |
| rs1488101959 | 1:226,924,247 | C/T | — | uncertain significance |
| rs1403734252 | 1:226,924,264 | C/T | — | likely benign |
| rs140811669 | 1:226,924,280 | C/A | — | likely benign |
| rs777197995 | 1:226,924,364 | G/A | — | likely benign |
| rs755840786 | 1:226,924,402 | G/A | — | uncertain significance |
| rs145241067 | 1:226,924,411 | C/T | — | uncertain significance |
| rs767447670 | 1:226,924,451 | G/A | — | uncertain significance |
| rs570710738 | 1:226,924,527 | C/G | — | uncertain significance |
| rs534663523 | 1:226,924,545 | C/G | — | uncertain significance |
| rs16846447 | 1:226,924,569 | G/T | — | benign |
| rs144143668 | 1:226,924,594 | C/T | — | uncertain significance |
| rs769528326 | 1:226,924,630 | G/A | — | uncertain significance |
| rs3754414 | 1:226,924,634 | A/G | — | likely benign |
| rs3754415 | 1:226,924,642 | C/T | — | conflicting classifications of pathogenicity |
| rs772745613 | 1:226,924,705 | G/C | — | uncertain significance |
| rs1657802683 | 1:226,924,732 | A/C | — | uncertain significance |
| rs2464949182 | 1:226,924,775 | T/C | — | uncertain significance |
| rs200899003 | 1:226,924,790 | G/A | — | uncertain significance |
| rs776095130 | 1:226,924,824 | C/A | — | uncertain significance |
| rs372742295 | 1:226,924,850 | C/T | — | uncertain significance |
| rs77775944 | 1:226,924,940 | C/T | — | likely benign |
| rs539639164 | 1:226,925,009 | C/T | — | uncertain significance |
| rs765455655 | 1:226,925,016 | G/C | — | uncertain significance |
| rs1484533620 | 1:226,925,030 | G/A | — | uncertain significance |
| rs755736300 | 1:226,925,060 | G/C | — | uncertain significance |
| rs138545670 | 1:226,925,167 | G/A | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.