GART
phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase
Summary
The protein encoded by this gene is a trifunctional polypeptide. It has phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase activity which is required for de novo purine biosynthesis. This enzyme is highly conserved in vertebrates. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Known Variants43 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs376904498 | 21:34,876,507 | G/A | — | uncertain significance |
| rs2517073379 | 21:34,876,725 | A/C | — | uncertain significance |
| rs537884285 | 21:34,876,829 | T/A | — | uncertain significance |
| rs545063473 | 21:34,877,928 | T/C | — | uncertain significance |
| rs146928280 | 21:34,878,328 | C/T | — | uncertain significance |
| rs2517081076 | 21:34,878,351 | T/C | — | uncertain significance |
| rs761517017 | 21:34,878,370 | T/C | — | uncertain significance |
| rs1309774581 | 21:34,878,388 | C/G | — | uncertain significance |
| rs2084675451 | 21:34,878,394 | G/A | — | uncertain significance |
| rs749293108 | 21:34,882,092 | G/A | — | uncertain significance |
| rs775381011 | 21:34,882,125 | T/C | — | uncertain significance |
| rs765008030 | 21:34,882,149 | G/A | — | uncertain significance |
| rs1203203857 | 21:34,882,171 | C/T | — | uncertain significance |
| rs570795394 | 21:34,882,174 | A/G | — | uncertain significance |
| rs147122322 | 21:34,882,197 | A/G | — | uncertain significance |
| rs200269758 | 21:34,882,219 | G/A | — | uncertain significance |
| rs560622901 | 21:34,883,154 | C/T | — | — |
| rs760825557 | 21:34,889,391 | C/T | — | uncertain significance |
| rs746683544 | 21:34,889,440 | G/A | — | uncertain significance |
| rs145056428 | 21:34,889,703 | A/C | — | uncertain significance |
| rs2084898135 | 21:34,889,711 | A/C | — | likely pathogenic |
| rs368440911 | 21:34,889,789 | A/T | — | uncertain significance |
| rs377766009 | 21:34,889,879 | G/T | — | uncertain significance |
| rs748437484 | 21:34,889,889 | T/C | — | uncertain significance |
| rs554416036 | 21:34,892,709 | A/G | — | uncertain significance |
| rs147558295 | 21:34,892,724 | G/A | — | uncertain significance |
| rs1569020489 | 21:34,892,853 | T/C | — | uncertain significance |
| rs149642453 | 21:34,893,310 | T/A | — | uncertain significance |
| rs909956508 | 21:34,893,322 | C/T | — | uncertain significance |
| rs201912693 | 21:34,894,542 | A/C | — | uncertain significance |
| rs748809550 | 21:34,894,557 | A/G | — | uncertain significance |
| rs745454518 | 21:34,894,573 | C/T | — | uncertain significance |
| rs2085039208 | 21:34,897,124 | T/A | — | uncertain significance |
| rs142020936 | 21:34,897,194 | C/G | — | uncertain significance |
| rs762562084 | 21:34,897,196 | C/T | — | likely benign |
| rs1368382881 | 21:34,900,863 | G/C | — | uncertain significance |
| rs374582609 | 21:34,903,096 | C/T | — | uncertain significance |
| rs2085187743 | 21:34,903,796 | G/A | — | uncertain significance |
| rs1473155527 | 21:34,904,710 | C/T | — | uncertain significance |
| rs553020429 | 21:34,905,527 | C/T | — | — |
| rs776934841 | 21:34,906,928 | T/G | — | uncertain significance |
| rs2517269113 | 21:34,911,489 | T/A | — | uncertain significance |
| rs529706662 | 21:34,915,171 | C/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.