GSK3B
glycogen synthase kinase 3 beta
Summary
The protein encoded by this gene is a serine-threonine kinase belonging to the glycogen synthase kinase subfamily. It is a negative regulator of glucose homeostasis and is involved in energy metabolism, inflammation, ER-stress, mitochondrial dysfunction, and apoptotic pathways. Defects in this gene have been associated with Parkinson disease and Alzheimer disease. [provided by RefSeq, Aug 2017]
Known Variants54 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs6808874 | 3:119,557,851 | A/C | — | — |
| rs6805251 | 3:119,560,606 | T/G | — | — |
| rs72548719 | 3:119,562,106 | C/T | — | benign |
| rs201103601 | 3:119,562,114 | T/C | — | uncertain significance |
| rs2055805424 | 3:119,562,150 | G/A | — | uncertain significance |
| rs113576547 | 3:119,562,385 | T/A | — | benign |
| rs7641045 | 3:119,571,859 | G/A | — | — |
| rs17183897 | 3:119,582,291 | A/G | — | benign |
| rs768507443 | 3:119,585,439 | G/A | — | uncertain significance |
| rs2056186233 | 3:119,585,454 | A/C | — | uncertain significance |
| rs7633279 | 3:119,585,690 | T/A | — | benign |
| rs78215512 | 3:119,595,033 | C/T | — | benign |
| rs45567135 | 3:119,595,051 | G/A | — | benign |
| rs1719895 | 3:119,595,503 | A/G | — | benign |
| rs4491945 | 3:119,598,725 | A/T | — | — |
| rs1732168 | 3:119,608,141 | C/G | — | — |
| rs7624540 | 3:119,608,947 | C/A | intron variant | — |
| rs13320980 | 3:119,609,160 | T/C | intron variant | — |
| rs6782799 | 3:119,610,793 | C/T | regulatory region variant | — |
| rs2319398 | 3:119,612,942 | C/A | intron variant | — |
| rs13321783 | 3:119,615,375 | T/C | intron variant | — |
| rs12629015 | 3:119,618,053 | A/G | regulatory region variant | — |
| rs72548703 | 3:119,624,481 | C/T | — | benign |
| rs9832865 | 3:119,631,349 | T/G | — | benign |
| rs6438552 | 3:119,631,814 | A/G | intron variant | benign |
| rs9825770 | 3:119,635,062 | T/C | — | benign |
| rs4072520 | 3:119,635,393 | C/G | — | — |
| rs7431209 | 3:119,641,442 | A/G | intron variant | — |
| rs17183890 | 3:119,642,241 | C/T | — | benign |
| rs577320814 | 3:119,648,183 | C/T | — | — |
| rs9878473 | 3:119,650,788 | T/G | — | — |
| rs13312998 | 3:119,666,266 | C/T | — | benign |
| rs10934502 | 3:119,669,136 | T/A | — | — |
| rs143504555 | 3:119,673,764 | C/A | — | — |
| rs6771023 | 3:119,693,611 | T/C | regulatory region variant | — |
| rs58605236 | 3:119,697,032 | T/C | — | — |
| rs9879992 | 3:119,712,721 | A/G | intron variant | — |
| rs17246737 | 3:119,720,824 | A/G | — | benign |
| rs2545867213 | 3:119,720,903 | T/C | — | uncertain significance |
| rs34002644 | 3:119,720,980 | T/A | — | benign |
| rs137972044 | 3:119,721,076 | G/A | — | likely benign |
| rs12108149 | 3:119,721,171 | T/C | — | benign |
| rs113113643 | 3:119,721,236 | T/A | — | benign |
| rs146280380 | 3:119,721,271 | C/T | — | benign |
| rs11919783 | 3:119,746,633 | G/A | upstream gene variant | — |
| rs1870931 | 3:119,757,013 | C/G | upstream gene variant | — |
| rs12630592 | 3:119,768,246 | G/T | intron variant | — |
| rs6779828 | 3:119,775,147 | C/T | intron variant | — |
| rs2199503 | 3:119,778,489 | T/C | intron variant | — |
| rs334535 | 3:119,792,304 | C/T | intron variant | — |
| rs334558 | 3:119,813,282 | A/G | regulatory region variant | benign |
| rs186739572 | 3:119,813,445 | C/T | — | benign |
| rs3755556 | 3:119,813,484 | C/A | — | benign |
| rs3755557 | 3:119,814,957 | T/A | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.