RCC2
regulator of chromosome condensation 2
Summary
The protein encoded by this gene is a guanine exchange factor that is active on RalA, a small GTPase. The encoded protein and RalA are both essential for proper kinetochore-microtubule function in early mitosis. This protein has been shown to be a biomarker for colorectal cancer. [provided by RefSeq, Oct 2016]
Known Variants27 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2526305842 | 1:17,735,643 | A/T | — | uncertain significance |
| rs549105201 | 1:17,740,062 | T/C | — | uncertain significance |
| rs772968944 | 1:17,740,192 | G/C | — | uncertain significance |
| rs2526330888 | 1:17,743,062 | T/C | — | uncertain significance |
| rs765710887 | 1:17,743,073 | C/T | — | uncertain significance |
| rs7528427 | 1:17,746,273 | C/G | — | — |
| rs750168150 | 1:17,747,242 | T/C | — | uncertain significance |
| rs864622010 | 1:17,747,287 | C/G | — | uncertain significance |
| rs730153 | 1:17,749,504 | G/C | — | — |
| rs372518228 | 1:17,752,109 | G/A | — | uncertain significance |
| rs749301831 | 1:17,752,114 | C/T | — | uncertain significance |
| rs751141523 | 1:17,752,175 | A/G | — | uncertain significance |
| rs60387933 | 1:17,753,340 | C/A | intron variant | — |
| rs967428152 | 1:17,755,638 | C/T | — | uncertain significance |
| rs111932154 | 1:17,757,221 | T/C | — | — |
| rs4920607 | 1:17,760,098 | A/G | intron variant | — |
| rs113663016 | 1:17,764,627 | G/A | regulatory region variant | — |
| rs2526412579 | 1:17,764,772 | C/T | — | uncertain significance |
| rs763666560 | 1:17,764,773 | C/A | — | uncertain significance |
| rs749681186 | 1:17,764,815 | C/A | — | uncertain significance |
| rs2526413797 | 1:17,764,887 | A/T | — | uncertain significance |
| rs527576288 | 1:17,764,915 | C/T | — | likely benign |
| rs895336495 | 1:17,764,919 | G/A | — | uncertain significance |
| rs1014549740 | 1:17,764,965 | A/C | — | uncertain significance |
| rs953268980 | 1:17,764,980 | A/G | — | uncertain significance |
| rs747715671 | 1:17,764,991 | G/C | — | uncertain significance |
| rs769291157 | 1:17,764,994 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.