PLCB2
phospholipase C beta 2
Summary
The protein encoded by this gene is a phosphodiesterase that catalyzes the hydrolysis of phosphatidylinositol 4,5-bisphosphate to the second messengers inositol 1,4,5-trisphosphate (IP3) and diacylglycerol. The encoded protein is activated by G proteins and has been shown to be involved in the type 2 taste receptor signal transduction pathway. In addition, nuclear factor kappa B can regulate the transcription of this gene, whose protein product is also an important regulator of platelet responses. [provided by RefSeq, Jan 2017]
Known Variants67 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs748566293 | 15:40,580,960 | C/T | — | uncertain significance |
| rs2542814249 | 15:40,581,074 | G/C | — | uncertain significance |
| rs753301403 | 15:40,581,106 | G/A | — | uncertain significance |
| rs200787930 | 15:40,581,499 | C/T | missense variant | — |
| rs754589888 | 15:40,581,523 | C/T | — | uncertain significance |
| rs377366171 | 15:40,581,537 | T/G | — | uncertain significance |
| rs201513540 | 15:40,582,819 | C/A | — | uncertain significance |
| rs760283955 | 15:40,582,826 | C/T | — | uncertain significance |
| rs199741833 | 15:40,582,952 | G/A | — | likely benign |
| rs370298493 | 15:40,582,983 | G/A | — | uncertain significance |
| rs762562740 | 15:40,583,035 | T/C | — | uncertain significance |
| rs559524517 | 15:40,583,343 | T/G | — | uncertain significance |
| rs768444275 | 15:40,583,362 | C/T | — | uncertain significance |
| rs1166799671 | 15:40,583,366 | C/G | — | uncertain significance |
| rs767956317 | 15:40,583,469 | T/G | — | uncertain significance |
| rs946771999 | 15:40,583,533 | C/G | — | uncertain significance |
| rs1229154663 | 15:40,583,556 | C/A | — | uncertain significance |
| rs746014512 | 15:40,583,810 | C/T | — | uncertain significance |
| rs759139303 | 15:40,583,840 | C/A | — | likely benign |
| rs779256250 | 15:40,584,067 | G/T | — | likely benign |
| rs1421395618 | 15:40,584,269 | G/A | — | uncertain significance |
| rs765773836 | 15:40,584,303 | A/T | — | uncertain significance |
| rs776900569 | 15:40,584,590 | G/A | — | uncertain significance |
| rs202225285 | 15:40,584,641 | T/C | missense variant | — |
| rs201519816 | 15:40,585,882 | T/C | — | uncertain significance |
| rs370834459 | 15:40,585,892 | C/T | — | uncertain significance |
| rs548866418 | 15:40,585,897 | C/T | — | uncertain significance |
| rs200020289 | 15:40,586,468 | G/A | — | uncertain significance |
| rs768874432 | 15:40,586,505 | G/C | — | uncertain significance |
| rs776725866 | 15:40,586,541 | G/A | — | uncertain significance |
| rs2542925127 | 15:40,586,600 | A/G | — | uncertain significance |
| rs372130791 | 15:40,586,626 | A/C | — | uncertain significance |
| rs142930709 | 15:40,587,437 | A/G | — | benign |
| rs35388653 | 15:40,587,461 | C/T | — | benign |
| rs189784842 | 15:40,587,477 | C/A | — | uncertain significance |
| rs138547741 | 15:40,588,511 | A/T | — | uncertain significance |
| rs772283694 | 15:40,588,586 | G/A | — | uncertain significance |
| rs770392264 | 15:40,588,730 | G/A | — | uncertain significance |
| rs1423998931 | 15:40,588,815 | T/C | — | likely benign |
| rs770606913 | 15:40,588,833 | A/G | — | uncertain significance |
| rs751626437 | 15:40,589,001 | C/T | — | uncertain significance |
| rs77734634 | 15:40,589,021 | G/A | — | likely benign |
| rs765646154 | 15:40,589,724 | G/A | — | uncertain significance |
| rs749415926 | 15:40,589,739 | G/T | — | uncertain significance |
| rs376098433 | 15:40,589,768 | G/A | — | uncertain significance |
| rs769251460 | 15:40,590,425 | T/C | — | likely benign |
| rs375119309 | 15:40,590,478 | G/C | — | uncertain significance |
| rs748859449 | 15:40,590,533 | A/G | — | uncertain significance |
| rs114336069 | 15:40,590,824 | G/C | — | benign |
| rs1169345126 | 15:40,591,032 | T/C | — | uncertain significance |
| rs566766494 | 15:40,591,035 | C/A | — | uncertain significance |
| rs372937887 | 15:40,591,422 | G/A | — | uncertain significance |
| rs2040532447 | 15:40,594,187 | G/A | — | uncertain significance |
| rs150110779 | 15:40,594,346 | G/A | — | uncertain significance |
| rs201429769 | 15:40,594,486 | G/A | — | uncertain significance |
| rs971055262 | 15:40,594,513 | G/A | — | uncertain significance |
| rs752602603 | 15:40,594,728 | G/A | — | uncertain significance |
| rs772957835 | 15:40,594,785 | T/G | — | uncertain significance |
| rs759386070 | 15:40,594,794 | T/C | — | uncertain significance |
| rs752587719 | 15:40,594,797 | C/T | — | uncertain significance |
| rs377506463 | 15:40,594,798 | G/A | — | uncertain significance |
| rs374171173 | 15:40,595,527 | G/A | — | uncertain significance |
| rs1869901 | 15:40,595,627 | G/A | downstream gene variant | — |
| rs761699247 | 15:40,596,215 | G/A | — | uncertain significance |
| rs148503632 | 15:40,596,222 | A/G | — | uncertain significance |
| rs767693228 | 15:40,599,810 | G/A | — | uncertain significance |
| rs377018757 | 15:40,599,857 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.