GLS
glutaminase
Summary
This gene encodes the K-type mitochondrial glutaminase. The encoded protein is an phosphate-activated amidohydrolase that catalyzes the hydrolysis of glutamine to glutamate and ammonia. This protein is primarily expressed in the brain and kidney plays an essential role in generating energy for metabolism, synthesizing the brain neurotransmitter glutamate and maintaining acid-base balance in the kidney. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]
Known Variants64 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs867993124 | 2:191,745,817 | C/T | — | uncertain significance |
| rs772006721 | 2:191,745,846 | C/A | — | uncertain significance |
| rs1307572661 | 2:191,745,876 | C/G | — | uncertain significance |
| rs763241079 | 2:191,745,884 | T/G | — | uncertain significance |
| rs2470211106 | 2:191,745,889 | C/G | — | uncertain significance |
| rs777682021 | 2:191,745,934 | G/A | — | uncertain significance |
| rs746848816 | 2:191,745,935 | G/T | — | uncertain significance |
| rs1227331425 | 2:191,745,958 | G/A | — | uncertain significance |
| rs560789927 | 2:191,745,959 | C/A | — | uncertain significance |
| rs2470211637 | 2:191,745,999 | G/T | — | uncertain significance |
| rs375229200 | 2:191,746,004 | C/T | — | uncertain significance |
| rs745868031 | 2:191,746,007 | A/G | — | likely benign |
| rs2470211735 | 2:191,746,027 | T/C | — | uncertain significance |
| rs868629773 | 2:191,746,028 | C/T | — | uncertain significance |
| rs775637177 | 2:191,746,038 | T/C | — | likely benign |
| rs1367964499 | 2:191,746,039 | T/C | — | uncertain significance |
| rs1559310284 | 2:191,746,051 | C/T | — | pathogenic |
| rs1311470717 | 2:191,746,073 | C/G | — | uncertain significance |
| rs143584207 | 2:191,746,076 | A/C | — | benign |
| rs1484566207 | 2:191,746,091 | T/G | — | uncertain significance |
| rs889058089 | 2:191,746,096 | C/T | — | uncertain significance |
| rs537971593 | 2:191,746,100 | C/T | — | likely benign |
| rs1410062609 | 2:191,746,105 | G/A | — | uncertain significance |
| rs1176940619 | 2:191,746,109 | C/T | — | uncertain significance |
| rs61613340 | 2:191,746,748 | G/C | coding sequence variant | — |
| rs200778139 | 2:191,759,875 | T/C | — | likely benign |
| rs1410989555 | 2:191,759,879 | A/G | — | uncertain significance |
| rs1688688520 | 2:191,759,913 | A/G | — | uncertain significance |
| rs2470239771 | 2:191,760,340 | C/G | — | uncertain significance |
| rs773887348 | 2:191,760,352 | G/A | — | uncertain significance |
| rs112403775 | 2:191,765,388 | A/G | — | uncertain significance |
| rs757527381 | 2:191,765,399 | A/G | — | uncertain significance |
| rs750810421 | 2:191,765,418 | A/G | — | uncertain significance |
| rs780773190 | 2:191,766,739 | G/A | — | uncertain significance |
| rs1558972120 | 2:191,766,752 | G/A | — | pathogenic |
| rs2124851950 | 2:191,769,780 | A/T | — | likely pathogenic |
| rs2470259523 | 2:191,769,781 | A/C | — | uncertain significance |
| rs2470259661 | 2:191,769,835 | A/G | — | likely benign |
| rs1558973667 | 2:191,769,852 | C/T | — | pathogenic |
| rs75276497 | 2:191,769,853 | G/A | — | likely benign |
| rs147745434 | 2:191,775,045 | A/C | — | uncertain significance |
| rs770047438 | 2:191,775,046 | A/G | — | uncertain significance |
| rs2355570 | 2:191,781,169 | A/G | intron variant | — |
| rs2124894940 | 2:191,785,869 | A/C | — | likely pathogenic |
| rs903163208 | 2:191,788,672 | G/A | — | uncertain significance |
| rs1574598079 | 2:191,788,686 | G/A | — | uncertain significance |
| rs2470308961 | 2:191,792,053 | T/C | — | likely pathogenic |
| rs140284772 | 2:191,792,077 | G/T | — | benign |
| rs2470309046 | 2:191,792,096 | G/A | — | uncertain significance |
| rs1373946574 | 2:191,792,110 | A/G | — | uncertain significance |
| rs2470309265 | 2:191,792,195 | A/G | — | conflicting classifications of pathogenicity |
| rs2470309270 | 2:191,792,201 | C/T | — | uncertain significance |
| rs1558986214 | 2:191,795,182 | C/G | — | no classifications from unflagged records |
| rs2470317423 | 2:191,795,260 | T/A | — | uncertain significance |
| rs575613519 | 2:191,796,371 | A/C | — | benign |
| rs190539169 | 2:191,797,456 | A/G | — | likely benign |
| rs2470322092 | 2:191,797,479 | A/C | — | uncertain significance |
| rs11683679 | 2:191,807,346 | T/A | intron variant | — |
| rs13399044 | 2:191,809,570 | C/T | — | — |
| rs202168519 | 2:191,818,302 | G/A | — | likely benign |
| rs3732211 | 2:191,818,323 | A/C | — | benign |
| rs1691037804 | 2:191,827,642 | C/T | — | likely pathogenic |
| rs35890674 | 2:191,827,663 | A/G | — | likely benign |
| rs1546647 | 2:191,828,205 | C/A | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.