RBKS
ribokinase
Summary
This gene encodes a member of the carbohydrate kinase PfkB family. The encoded protein phosphorylates ribose to form ribose-5-phosphate in the presence of ATP and magnesium as a first step in ribose metabolism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
Known Variants35 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs888816409 | 2:28,004,527 | C/G | — | uncertain significance |
| rs142811862 | 2:28,004,606 | T/G | — | uncertain significance |
| rs768632901 | 2:28,004,630 | G/A | — | uncertain significance |
| rs75634311 | 2:28,006,684 | G/C | downstream gene variant | — |
| rs191609075 | 2:28,006,737 | G/A | downstream gene variant | — |
| rs36035825 | 2:28,018,131 | T/G | intron variant | — |
| rs4666012 | 2:28,018,293 | A/C | — | — |
| rs4666015 | 2:28,019,367 | G/A | regulatory region variant | — |
| rs34181670 | 2:28,019,856 | T/A | — | — |
| rs12623170 | 2:28,020,157 | C/T | regulatory region variant | — |
| rs3935148 | 2:28,020,966 | T/C | — | — |
| rs11127126 | 2:28,023,284 | C/T | regulatory region variant | — |
| rs72810512 | 2:28,024,398 | C/T | intron variant | — |
| rs13019037 | 2:28,024,642 | C/G | — | — |
| rs12465012 | 2:28,028,191 | C/A | — | — |
| rs4493211 | 2:28,039,472 | G/A | — | — |
| rs4465729 | 2:28,039,665 | T/A | — | — |
| rs115093996 | 2:28,046,834 | T/C | intron variant | — |
| rs56242350 | 2:28,049,020 | A/G | intron variant | — |
| rs144415591 | 2:28,050,589 | C/T | — | uncertain significance |
| rs377339143 | 2:28,055,629 | T/C | — | uncertain significance |
| rs12463914 | 2:28,057,359 | C/G | — | — |
| rs201716905 | 2:28,065,946 | G/A | — | uncertain significance |
| rs1399626026 | 2:28,066,036 | C/A | — | uncertain significance |
| rs1483568624 | 2:28,069,917 | T/C | — | uncertain significance |
| rs142431910 | 2:28,069,927 | T/C | — | uncertain significance |
| rs780321086 | 2:28,069,933 | C/A | — | uncertain significance |
| rs1422797940 | 2:28,070,904 | T/G | — | uncertain significance |
| rs1436380532 | 2:28,070,936 | T/G | — | uncertain significance |
| rs1246505337 | 2:28,070,945 | C/T | — | uncertain significance |
| rs4447576 | 2:28,076,248 | T/G | — | — |
| rs369972719 | 2:28,081,427 | C/T | — | uncertain significance |
| rs766740534 | 2:28,081,428 | G/A | — | uncertain significance |
| rs140948699 | 2:28,081,439 | C/G | splice region variant | Likely benign |
| rs77841344 | 2:28,102,495 | G/A | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.