JRK
Jrk helix-turn-helix protein
Summary
This gene encodes a conserved protein that is similar to DNA-binding proteins, such as major centromere autoantigen B (CENPB). Inactivation of the related gene in mice resulted in epileptic seizures. Childhood Absence Epilepsy (CAE) has been mapped to the same chromosomal location (8q24.3) as this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Known Variants32 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1137522 | 8:143,739,020 | A/C | coding sequence variant | — |
| rs147786364 | 8:143,742,252 | C/G | coding sequence variant | — |
| rs12675227 | 8:143,742,435 | T/C | coding sequence variant | — |
| rs145834877 | 8:143,745,515 | G/A | coding sequence variant | — |
| rs2539851642 | 8:143,745,918 | C/A | — | likely benign |
| rs147803227 | 8:143,745,949 | C/T | — | likely benign |
| rs35283248 | 8:143,745,968 | C/T | — | likely benign |
| rs2976399 | 8:143,746,050 | C/C | — | benign |
| rs201142495 | 8:143,746,051 | G/A | — | likely benign |
| rs3735999 | 8:143,746,069 | T/C | — | benign |
| rs104894081 | 8:143,746,111 | G/A | — | likely benign |
| rs2539853416 | 8:143,746,125 | C/A | — | likely benign |
| rs2539853463 | 8:143,746,128 | T/G | — | likely benign |
| rs782252872 | 8:143,746,180 | C/T | — | uncertain significance |
| rs782206054 | 8:143,746,186 | T/C | — | likely benign |
| rs781857287 | 8:143,746,192 | G/A | — | uncertain significance |
| rs113155554 | 8:143,746,227 | G/A | — | likely benign |
| rs782664346 | 8:143,746,301 | C/T | — | uncertain significance |
| rs1191224703 | 8:143,746,372 | G/A | — | uncertain significance |
| rs375937258 | 8:143,746,382 | C/T | — | likely benign |
| rs754957 | 8:143,746,416 | A/A | — | benign |
| rs3802232 | 8:143,746,701 | A/A | — | benign |
| rs192933202 | 8:143,746,941 | G/A | — | likely benign |
| rs182435493 | 8:143,746,992 | C/T | — | likely benign |
| rs587751093 | 8:143,747,007 | G/A | — | likely benign |
| rs34800931 | 8:143,747,097 | C/T | — | benign |
| rs2539860022 | 8:143,747,099 | C/A | — | uncertain significance |
| rs150164684 | 8:143,747,172 | G/A | — | likely benign |
| rs2978973 | 8:143,747,271 | C/C | — | benign |
| rs34288113 | 8:143,747,389 | G/A | — | benign |
| rs782664860 | 8:143,747,435 | G/A | — | uncertain significance |
| rs1847117405 | 8:143,747,444 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.