GOT1
glutamic-oxaloacetic transaminase 1
Summary
Glutamic-oxaloacetic transaminase is a pyridoxal phosphate-dependent enzyme which exists in cytoplasmic and mitochondrial forms, GOT1 and GOT2, respectively. GOT plays a role in amino acid metabolism and the urea and tricarboxylic acid cycles. The two enzymes are homodimeric and show close homology. [provided by RefSeq, Jul 2008]
Known Variants25 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs143990063 | 10:101,156,844 | C/A | downstream gene variant | — |
| rs2032617089 | 10:101,157,321 | C/G | — | uncertain significance |
| rs76850691 | 10:101,157,438 | G/C | missense variant | — |
| rs2032696305 | 10:101,162,382 | G/A | — | uncertain significance |
| rs760981253 | 10:101,162,403 | T/C | — | uncertain significance |
| rs776770969 | 10:101,163,240 | C/G | — | uncertain significance |
| rs769200718 | 10:101,163,271 | C/T | — | uncertain significance |
| rs757289951 | 10:101,163,311 | C/T | — | uncertain significance |
| rs2494132535 | 10:101,163,505 | A/C | — | uncertain significance |
| rs147376283 | 10:101,163,627 | C/T | — | uncertain significance |
| rs139135226 | 10:101,163,636 | G/A | — | likely benign |
| rs374966349 | 10:101,165,533 | G/C | missense variant | — |
| rs765499448 | 10:101,165,558 | A/C | — | uncertain significance |
| rs781754659 | 10:101,165,585 | G/A | — | likely benign |
| rs142860219 | 10:101,165,607 | T/C | — | benign |
| rs146049867 | 10:101,165,952 | C/T | — | likely benign |
| rs200974612 | 10:101,166,543 | G/A | — | uncertain significance |
| rs2234971 | 10:101,166,544 | C/T | — | benign |
| rs146802616 | 10:101,180,424 | C/T | — | uncertain significance |
| rs754787823 | 10:101,180,425 | G/A | — | uncertain significance |
| rs1175305845 | 10:101,180,467 | G/T | — | uncertain significance |
| rs2494151792 | 10:101,180,483 | G/C | — | uncertain significance |
| rs376034578 | 10:101,180,509 | C/G | — | uncertain significance |
| rs2033105636 | 10:101,190,279 | G/A | — | uncertain significance |
| rs1458717877 | 10:101,190,285 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.