CDK5RAP2
CDK5 regulatory subunit associated protein 2
Summary
This gene encodes a regulator of CDK5 (cyclin-dependent kinase 5) activity. The protein encoded by this gene is localized to the centrosome and Golgi complex, interacts with CDK5R1 and pericentrin (PCNT), plays a role in centriole engagement and microtubule nucleation, and has been linked to primary microcephaly and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
Known Variants746 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2031647370 | 9:123,151,183 | T/A | — | uncertain significance |
| rs2031650568 | 9:123,151,203 | G/A | — | uncertain significance |
| rs181859642 | 9:123,151,250 | C/T | — | benign |
| rs1052092231 | 9:123,151,303 | G/C | — | uncertain significance |
| rs371900717 | 9:123,151,467 | G/A | — | uncertain significance |
| rs2031680606 | 9:123,151,484 | A/T | — | uncertain significance |
| rs199736016 | 9:123,151,547 | T/C | — | conflicting classifications of pathogenicity |
| rs1211671769 | 9:123,151,549 | G/A | — | uncertain significance |
| rs766759076 | 9:123,151,555 | C/G | — | uncertain significance |
| rs754995238 | 9:123,151,570 | G/C | — | uncertain significance |
| rs2538789418 | 9:123,151,575 | G/A | — | likely benign |
| rs748994723 | 9:123,151,588 | A/G | — | likely benign |
| rs76452024 | 9:123,151,650 | G/A | — | likely benign |
| rs4836820 | 9:123,151,679 | G/A | — | benign |
| rs1001079655 | 9:123,152,022 | C/T | — | likely benign |
| rs752717425 | 9:123,152,041 | C/A | — | uncertain significance |
| rs147082653 | 9:123,152,060 | C/T | — | uncertain significance |
| rs2538792415 | 9:123,152,065 | A/T | — | likely pathogenic |
| rs2538792503 | 9:123,152,080 | A/C | — | likely benign |
| rs2297457 | 9:123,152,099 | C/G | — | benign |
| rs2297456 | 9:123,152,241 | A/C | — | benign |
| rs2297455 | 9:123,152,260 | G/A | — | likely benign |
| rs191092101 | 9:123,152,287 | G/A | intron variant | — |
| rs113524889 | 9:123,152,307 | T/C | — | likely benign |
| rs116591661 | 9:123,156,474 | C/T | — | likely benign |
| rs10739563 | 9:123,156,480 | T/C | — | benign |
| rs7859743 | 9:123,156,591 | A/G | — | benign |
| rs10984901 | 9:123,156,657 | G/T | — | benign |
| rs7859997 | 9:123,156,730 | C/G | — | likely benign |
| rs10984902 | 9:123,156,742 | G/A | — | benign |
| rs4410972 | 9:123,156,761 | G/C | — | benign |
| rs77100552 | 9:123,156,790 | A/G | — | likely benign |
| rs2538814201 | 9:123,156,802 | T/C | — | uncertain significance |
| rs1225151004 | 9:123,156,815 | G/A | — | likely benign |
| rs2538814470 | 9:123,156,842 | G/A | — | likely benign |
| rs374625129 | 9:123,156,851 | C/T | — | conflicting classifications of pathogenicity |
| rs760807024 | 9:123,156,852 | A/G | — | uncertain significance |
| rs2538814595 | 9:123,156,855 | T/G | — | uncertain significance |
| rs189396476 | 9:123,156,869 | A/C | — | uncertain significance |
| rs114128928 | 9:123,156,914 | A/C | — | conflicting classifications of pathogenicity |
| rs1588215914 | 9:123,156,923 | A/G | — | likely benign |
| rs755755790 | 9:123,156,924 | G/A | — | conflicting classifications of pathogenicity |
| rs777456961 | 9:123,156,927 | G/A | — | likely benign |
| rs12379034 | 9:123,162,666 | A/G | intron variant | — |
| rs12376337 | 9:123,162,795 | G/A | — | benign |
| rs587783396 | 9:123,163,023 | C/T | — | conflicting classifications of pathogenicity |
| rs2538842183 | 9:123,163,035 | G/A | — | likely benign |
| rs2032934405 | 9:123,163,038 | G/T | — | likely pathogenic |
| rs3739822 | 9:123,163,053 | G/A | — | likely benign |
| rs545543130 | 9:123,163,058 | G/A | — | uncertain significance |
| rs919150866 | 9:123,163,059 | T/G | — | likely benign |
| rs1447614166 | 9:123,163,083 | C/G | — | likely benign |
| rs763286312 | 9:123,163,085 | G/A | — | uncertain significance |
| rs774322006 | 9:123,163,098 | T/G | — | uncertain significance |
| rs991061168 | 9:123,163,107 | C/T | — | likely benign |
| rs375896806 | 9:123,163,109 | G/T | — | uncertain significance |
| rs587783395 | 9:123,163,112 | T/G | — | uncertain significance |
| rs145402135 | 9:123,163,116 | C/T | — | conflicting classifications of pathogenicity |
| rs751971032 | 9:123,163,117 | G/A | — | uncertain significance |
| rs1262643836 | 9:123,163,126 | C/T | — | likely benign |
| rs148857536 | 9:123,163,153 | G/A | — | uncertain significance |
| rs1554727598 | 9:123,163,158 | T/C | — | likely benign |
| rs2032949484 | 9:123,163,167 | C/G | — | likely benign |
| rs147693474 | 9:123,163,169 | C/A | — | likely benign |
| rs191994393 | 9:123,163,174 | G/A | — | benign |
| rs142478904 | 9:123,163,193 | G/A | — | likely benign |
| rs115889058 | 9:123,163,424 | C/T | — | likely benign |
| rs1547266 | 9:123,163,476 | C/T | — | benign |
| rs200521701 | 9:123,165,035 | G/A | — | likely benign |
| rs1374451556 | 9:123,165,078 | G/A | — | uncertain significance |
| rs199918999 | 9:123,165,096 | C/G | — | likely benign |
| rs545646890 | 9:123,165,134 | T/C | — | conflicting classifications of pathogenicity |
| rs753148214 | 9:123,165,150 | G/A | — | conflicting classifications of pathogenicity |
| rs886063389 | 9:123,165,156 | C/G | — | uncertain significance |
| rs587783392 | 9:123,165,164 | G/A | stop gained | pathogenic |
| rs754398195 | 9:123,165,169 | A/G | — | uncertain significance |
| rs572551421 | 9:123,165,179 | G/C | — | uncertain significance |
| rs150994426 | 9:123,165,190 | T/C | — | conflicting classifications of pathogenicity |
| rs373833490 | 9:123,165,214 | T/C | — | uncertain significance |
| rs948437328 | 9:123,165,217 | C/A | — | uncertain significance |
| rs2538856467 | 9:123,165,221 | C/T | — | uncertain significance |
| rs886063390 | 9:123,165,224 | T/C | — | uncertain significance |
| rs759189611 | 9:123,165,234 | C/T | — | likely pathogenic |
| rs141004029 | 9:123,165,239 | G/C | — | conflicting classifications of pathogenicity |
| rs750564630 | 9:123,165,248 | C/T | — | uncertain significance |
| rs1399085671 | 9:123,165,250 | G/A | — | uncertain significance |
| rs747902104 | 9:123,165,260 | G/A | — | uncertain significance |
| rs144886935 | 9:123,165,265 | A/G | — | uncertain significance |
| rs1186360190 | 9:123,165,266 | C/G | — | uncertain significance |
| rs748889605 | 9:123,165,270 | C/T | — | conflicting classifications of pathogenicity |
| rs532418421 | 9:123,165,271 | G/A | — | uncertain significance |
| rs769061645 | 9:123,165,285 | C/T | — | likely benign |
| rs777175354 | 9:123,165,286 | G/A | — | uncertain significance |
| rs201679445 | 9:123,165,300 | G/A | — | likely benign |
| rs200125217 | 9:123,165,316 | G/A | — | conflicting classifications of pathogenicity |
| rs886063391 | 9:123,165,330 | G/C | — | uncertain significance |
| rs1289442330 | 9:123,165,332 | G/C | — | uncertain significance |
| rs886063392 | 9:123,165,342 | C/T | — | uncertain significance |
| rs75904110 | 9:123,165,445 | G/T | — | benign |
| rs16909739 | 9:123,166,107 | G/A | — | benign |
Showing 100 of 746 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.