GPN1
GPN-loop GTPase 1
Summary
This gene encodes a guanosine triphosphatase enzyme. The encoded protein may play a role in DNA repair and may function in activation of transcription. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]
Known Variants17 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2466495375 | 2:27,851,909 | G/A | — | uncertain significance |
| rs3749147 | 2:27,851,918 | G/A | missense variant | — |
| rs1388763379 | 2:27,851,948 | C/T | — | uncertain significance |
| rs758480925 | 2:27,851,975 | G/T | — | uncertain significance |
| rs778506911 | 2:27,852,732 | A/G | — | uncertain significance |
| rs138515946 | 2:27,852,811 | C/T | — | uncertain significance |
| rs13002853 | 2:27,853,245 | C/T | — | — |
| rs775567920 | 2:27,853,900 | G/A | — | uncertain significance |
| rs6547741 | 2:27,855,924 | G/C | — | — |
| rs111571364 | 2:27,859,317 | G/T | downstream gene variant | — |
| rs757995986 | 2:27,861,855 | G/A | — | uncertain significance |
| rs781549099 | 2:27,861,861 | T/A | — | uncertain significance |
| rs373008981 | 2:27,862,979 | G/A | — | uncertain significance |
| rs769666036 | 2:27,865,296 | G/A | — | uncertain significance |
| rs138879960 | 2:27,865,351 | T/G | — | uncertain significance |
| rs2466568395 | 2:27,870,727 | C/T | — | uncertain significance |
| rs372179324 | 2:27,870,745 | C/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.