GMPR2
guanosine monophosphate reductase 2
Summary
This gene encodes an enzyme that catalyzes the irreversible and NADPH-dependent reductive deamination of guanosine monophosphate (GMP) to inosine monophosphate (IMP). The protein also functions in the re-utilization of free intracellular bases and purine nucleosides. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]
Known Variants21 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs753269346 | 14:24,702,421 | C/A | — | uncertain significance |
| rs201546406 | 14:24,702,728 | C/T | — | uncertain significance |
| rs1398654775 | 14:24,702,763 | G/A | — | uncertain significance |
| rs2502359307 | 14:24,702,800 | G/T | — | uncertain significance |
| rs45530636 | 14:24,705,004 | G/T | — | uncertain significance |
| rs2040326695 | 14:24,705,246 | A/G | — | uncertain significance |
| rs2502394089 | 14:24,705,296 | G/A | — | uncertain significance |
| rs771838058 | 14:24,705,318 | G/A | — | uncertain significance |
| rs2273305 | 14:24,705,629 | C/G | downstream gene variant | — |
| rs199867463 | 14:24,706,267 | T/C | downstream gene variant | — |
| rs367939986 | 14:24,706,466 | C/T | — | uncertain significance |
| rs2502426000 | 14:24,707,466 | T/C | — | uncertain significance |
| rs374698582 | 14:24,707,474 | G/C | — | uncertain significance |
| rs34354104 | 14:24,707,479 | G/T | missense variant | — |
| rs386352308 | 14:24,707,566 | C/T | — | uncertain significance |
| rs770775837 | 14:24,707,602 | C/T | — | uncertain significance |
| rs202155508 | 14:24,707,608 | A/C | — | uncertain significance |
| rs147556927 | 14:24,707,879 | T/C | synonymous variant | — |
| rs1594543574 | 14:24,707,910 | A/G | — | uncertain significance |
| rs1225961742 | 14:24,707,926 | G/A | — | uncertain significance |
| rs766825926 | 14:24,707,941 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.