CDK5RAP3
CDK5 regulatory subunit associated protein 3
Summary
This gene encodes a protein that has been reported to function in signaling pathways governing transcriptional regulation and cell cycle progression. It may play a role in tumorigenesis and metastasis. A pseudogene of this gene is located on the long arm of chromosome 20. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, May 2013]
Known Variants32 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2597167 | 17:46,047,656 | T/C | regulatory region variant | — |
| rs748523854 | 17:46,050,974 | A/G | — | uncertain significance |
| rs150789447 | 17:46,051,339 | A/G | — | uncertain significance |
| rs11545890 | 17:46,051,357 | C/T | — | uncertain significance |
| rs746048899 | 17:46,051,384 | C/T | — | uncertain significance |
| rs776945659 | 17:46,052,569 | C/T | — | uncertain significance |
| rs2509329697 | 17:46,052,887 | A/G | — | uncertain significance |
| rs370792872 | 17:46,052,926 | C/T | — | uncertain significance |
| rs756775349 | 17:46,052,928 | A/C | — | uncertain significance |
| rs575641521 | 17:46,053,269 | G/A | — | uncertain significance |
| rs756247120 | 17:46,053,299 | G/A | — | uncertain significance |
| rs2509331866 | 17:46,053,323 | T/C | — | uncertain significance |
| rs746686583 | 17:46,053,336 | G/C | — | uncertain significance |
| rs758964348 | 17:46,053,347 | G/C | — | uncertain significance |
| rs766509639 | 17:46,053,378 | C/T | — | uncertain significance |
| rs61749926 | 17:46,054,107 | C/A | — | likely benign |
| rs201304272 | 17:46,054,109 | T/C | — | likely benign |
| rs2036424815 | 17:46,054,130 | G/T | — | uncertain significance |
| rs979000396 | 17:46,054,144 | G/C | — | uncertain significance |
| rs763598750 | 17:46,054,150 | G/A | — | uncertain significance |
| rs369615537 | 17:46,054,151 | G/T | — | uncertain significance |
| rs375999007 | 17:46,054,154 | T/G | — | uncertain significance |
| rs568360281 | 17:46,054,408 | C/T | — | — |
| rs2509338116 | 17:46,055,208 | G/A | — | uncertain significance |
| rs35054799 | 17:46,055,258 | C/G | — | uncertain significance |
| rs371663744 | 17:46,056,254 | C/T | — | uncertain significance |
| rs778005374 | 17:46,056,255 | G/A | — | uncertain significance |
| rs376202323 | 17:46,058,073 | A/T | — | uncertain significance |
| rs145060685 | 17:46,058,107 | T/C | — | uncertain significance |
| rs759715495 | 17:46,058,822 | A/G | — | uncertain significance |
| rs762802476 | 17:46,058,833 | G/T | — | uncertain significance |
| rs1488205794 | 17:46,058,854 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.