PIK3R3
phosphoinositide-3-kinase regulatory subunit 3
Summary
Phosphatidylinositol 3-kinase (PI3K) phosphorylates phosphatidylinositol and similar compounds, which then serve as second messengers in growth signaling pathways. PI3K is composed of a catalytic and a regulatory subunit. The protein encoded by this gene represents a regulatory subunit of PI3K. The encoded protein contains two SH2 domains through which it binds activated protein tyrosine kinases to regulate their activity. [provided by RefSeq, Jun 2016]
Known Variants28 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs769381872 | 1:46,509,412 | T/C | — | uncertain significance |
| rs368641799 | 1:46,509,499 | C/T | — | uncertain significance |
| rs755888231 | 1:46,509,539 | C/T | — | uncertain significance |
| rs200304610 | 1:46,511,617 | T/C | — | uncertain significance |
| rs1647105119 | 1:46,511,647 | T/A | — | uncertain significance |
| rs775490161 | 1:46,511,686 | T/C | — | uncertain significance |
| rs1612092 | 1:46,513,012 | A/T | — | — |
| rs785471 | 1:46,518,677 | T/C | downstream gene variant | — |
| rs781238627 | 1:46,521,576 | C/G | — | uncertain significance |
| rs765790132 | 1:46,521,611 | C/T | — | uncertain significance |
| rs72677528 | 1:46,526,185 | A/G | intron variant | — |
| rs785510 | 1:46,528,618 | T/C | regulatory region variant | — |
| rs2524649054 | 1:46,531,799 | T/C | — | uncertain significance |
| rs142576318 | 1:46,532,653 | T/C | — | uncertain significance |
| rs368006440 | 1:46,532,657 | G/C | — | uncertain significance |
| rs753534655 | 1:46,543,226 | G/C | — | uncertain significance |
| rs746011332 | 1:46,543,232 | C/T | — | uncertain significance |
| rs768436728 | 1:46,543,251 | C/T | — | uncertain significance |
| rs785485 | 1:46,574,424 | C/T | downstream gene variant | — |
| rs186080410 | 1:46,575,095 | A/G | downstream gene variant | — |
| rs785490 | 1:46,577,124 | T/C | intron variant | — |
| rs11211257 | 1:46,581,933 | A/G | intron variant | — |
| rs11587648 | 1:46,585,418 | G/A | intron variant | — |
| rs10890383 | 1:46,588,503 | A/C | — | — |
| rs1707304 | 1:46,598,269 | C/A | regulatory region variant | — |
| rs1355642 | 1:46,598,903 | A/T | — | — |
| rs1707302 | 1:46,600,917 | A/T | — | — |
| rs1416706 | 1:46,602,844 | G/A | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.