GLS2
glutaminase 2
Summary
The protein encoded by this gene is a mitochondrial phosphate-activated glutaminase that catalyzes the hydrolysis of glutamine to stoichiometric amounts of glutamate and ammonia. Originally thought to be liver-specific, this protein has been found in other tissues as well. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013]
Known Variants25 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2638315 | 12:56,865,056 | G/C | upstream gene variant | — |
| rs2657879 | 12:56,865,338 | A/T | missense variant | — |
| rs115701548 | 12:56,865,339 | G/A | — | uncertain significance |
| rs781271836 | 12:56,865,620 | C/T | — | uncertain significance |
| rs2638314 | 12:56,866,334 | T/A | upstream gene variant | — |
| rs78764167 | 12:56,867,013 | C/T | — | uncertain significance |
| rs752271151 | 12:56,867,050 | G/A | — | uncertain significance |
| rs2547321827 | 12:56,867,345 | C/T | — | uncertain significance |
| rs145926460 | 12:56,868,451 | G/A | — | likely benign |
| rs770689194 | 12:56,868,468 | C/T | — | uncertain significance |
| rs61731958 | 12:56,868,666 | C/T | — | benign |
| rs141411550 | 12:56,868,851 | C/T | — | uncertain significance |
| rs760689226 | 12:56,868,865 | C/T | — | uncertain significance |
| rs1592275599 | 12:56,869,405 | T/C | — | likely benign |
| rs568280019 | 12:56,869,427 | T/C | — | uncertain significance |
| rs1363630635 | 12:56,869,439 | C/T | — | uncertain significance |
| rs2547327230 | 12:56,871,738 | T/G | — | uncertain significance |
| rs2547327233 | 12:56,871,739 | G/C | — | uncertain significance |
| rs1427602782 | 12:56,871,797 | A/C | — | uncertain significance |
| rs2547327305 | 12:56,871,812 | A/G | — | uncertain significance |
| rs776900455 | 12:56,872,874 | G/A | — | uncertain significance |
| rs780275885 | 12:56,873,579 | C/T | — | uncertain significance |
| rs752285913 | 12:56,874,097 | C/T | — | likely benign |
| rs1170896252 | 12:56,874,154 | C/T | — | uncertain significance |
| rs1870842317 | 12:56,881,886 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.