ITPKC
inositol-trisphosphate 3-kinase C
Summary
This gene encodes a member of the inositol 1,4,5-trisphosphate [Ins(1,4,5)P(3)] 3-kinase family of enzymes that catalyze the phosphorylation of inositol 1,4,5-trisphosphate to 1,3,4,5-tetrakisphosphate. The encoded protein is localized to the nucleus and cytoplasm and has both nuclear import and nuclear export activity. Single nucleotide polymorphisms in this gene are associated with Kawasaki disease.[provided by RefSeq, Sep 2009]
Known Variants69 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1008450178 | 19:41,223,113 | G/A | — | uncertain significance |
| rs778372145 | 19:41,223,169 | G/T | — | likely benign |
| rs1209468931 | 19:41,223,182 | G/T | — | uncertain significance |
| rs746697179 | 19:41,223,201 | A/C | — | uncertain significance |
| rs2515523362 | 19:41,223,281 | G/T | — | uncertain significance |
| rs757842243 | 19:41,223,316 | C/G | — | uncertain significance |
| rs201718287 | 19:41,223,391 | G/C | — | uncertain significance |
| rs1275501019 | 19:41,223,399 | T/G | — | uncertain significance |
| rs145479132 | 19:41,223,467 | G/A | — | likely benign |
| rs773439482 | 19:41,223,486 | C/A | — | uncertain significance |
| rs569410899 | 19:41,223,497 | G/A | — | uncertain significance |
| rs780091351 | 19:41,223,549 | A/G | — | uncertain significance |
| rs1443766793 | 19:41,223,555 | C/T | — | uncertain significance |
| rs151059025 | 19:41,223,576 | A/G | — | uncertain significance |
| rs748464258 | 19:41,223,593 | C/T | — | uncertain significance |
| rs138657519 | 19:41,223,645 | C/T | — | uncertain significance |
| rs1663427068 | 19:41,223,734 | A/G | — | uncertain significance |
| rs145872081 | 19:41,223,769 | G/T | — | uncertain significance |
| rs751399316 | 19:41,223,777 | C/G | — | uncertain significance |
| rs201787202 | 19:41,223,795 | A/C | — | uncertain significance |
| rs767303907 | 19:41,223,797 | C/A | — | uncertain significance |
| rs2082198973 | 19:41,223,798 | A/G | — | uncertain significance |
| rs143099284 | 19:41,223,833 | G/A | — | uncertain significance |
| rs182643309 | 19:41,223,836 | G/A | — | likely benign |
| rs754452479 | 19:41,223,909 | G/A | — | uncertain significance |
| rs370167259 | 19:41,223,911 | A/G | — | uncertain significance |
| rs375750523 | 19:41,223,939 | A/T | — | uncertain significance |
| rs202231780 | 19:41,223,961 | G/A | — | likely benign |
| rs377575949 | 19:41,223,986 | T/A | — | uncertain significance |
| rs751885637 | 19:41,224,058 | G/C | — | uncertain significance |
| rs771685411 | 19:41,224,088 | G/A | — | uncertain significance |
| rs137870702 | 19:41,224,097 | G/A | — | uncertain significance |
| rs2515526122 | 19:41,224,128 | T/G | — | uncertain significance |
| rs778568321 | 19:41,224,156 | C/T | — | likely benign |
| rs2515526284 | 19:41,224,167 | G/A | — | uncertain significance |
| rs7257602 | 19:41,224,898 | A/C | — | — |
| rs7251246 | 19:41,227,106 | C/T | upstream gene variant | — |
| rs890934 | 19:41,227,968 | G/T | regulatory region variant | — |
| rs191170764 | 19:41,229,059 | G/T | upstream gene variant | — |
| rs748714982 | 19:41,231,270 | C/G | — | uncertain significance |
| rs202047205 | 19:41,231,300 | C/T | — | uncertain significance |
| rs144311008 | 19:41,231,312 | A/G | — | uncertain significance |
| rs10420685 | 19:41,235,120 | A/G | synonymous variant | — |
| rs2082259417 | 19:41,235,122 | G/A | — | uncertain significance |
| rs369305104 | 19:41,235,127 | G/C | — | uncertain significance |
| rs142308355 | 19:41,235,134 | G/A | — | uncertain significance |
| rs373104401 | 19:41,235,152 | G/C | — | uncertain significance |
| rs773751212 | 19:41,235,179 | A/G | — | uncertain significance |
| rs750442375 | 19:41,235,220 | T/C | — | uncertain significance |
| rs376093815 | 19:41,235,287 | G/C | — | uncertain significance |
| rs149591476 | 19:41,239,056 | T/C | — | likely benign |
| rs1319543641 | 19:41,239,108 | C/T | — | uncertain significance |
| rs139491097 | 19:41,239,111 | C/T | — | uncertain significance |
| rs757643494 | 19:41,239,124 | T/C | — | uncertain significance |
| rs1464302119 | 19:41,239,174 | C/T | — | uncertain significance |
| rs759455262 | 19:41,239,225 | A/G | — | likely benign |
| rs146632462 | 19:41,239,241 | C/T | — | uncertain significance |
| rs771918092 | 19:41,242,916 | A/G | — | uncertain significance |
| rs2515552500 | 19:41,242,941 | G/T | — | uncertain significance |
| rs538947334 | 19:41,242,963 | G/A | — | uncertain significance |
| rs2607420 | 19:41,244,887 | G/C | — | — |
| rs747306506 | 19:41,245,256 | C/T | — | likely benign |
| rs773845156 | 19:41,245,286 | G/A | — | uncertain significance |
| rs141298994 | 19:41,245,313 | G/A | — | uncertain significance |
| rs369550545 | 19:41,245,331 | G/A | — | uncertain significance |
| rs2515556546 | 19:41,245,355 | C/G | — | uncertain significance |
| rs770271542 | 19:41,245,368 | G/A | — | uncertain significance |
| rs200330367 | 19:41,245,469 | G/T | — | likely benign |
| rs2290692 | 19:41,246,378 | G/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.