DPYSL2
dihydropyrimidinase like 2
Summary
This gene encodes a member of the collapsin response mediator protein family. Collapsin response mediator proteins form homo- and hetero-tetramers and facilitate neuron guidance, growth and polarity. The encoded protein promotes microtubule assembly and is required for Sema3A-mediated growth cone collapse, and also plays a role in synaptic signaling through interactions with calcium channels. This gene has been implicated in multiple neurological disorders, and hyperphosphorylation of the encoded protein may play a key role in the development of Alzheimer's disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]
Known Variants41 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs4872449 | 8:26,370,514 | G/A | regulatory region variant | — |
| rs1442885 | 8:26,395,258 | C/A | intron variant | — |
| rs418624 | 8:26,431,560 | T/G | — | — |
| rs138340807 | 8:26,439,487 | C/A | missense variant | pathogenic |
| rs1212338896 | 8:26,439,534 | C/T | — | uncertain significance |
| rs747063457 | 8:26,441,375 | G/A | — | likely benign |
| rs753474956 | 8:26,441,459 | A/G | — | likely benign |
| rs2228979 | 8:26,481,697 | G/A | — | benign |
| rs964924226 | 8:26,481,727 | G/A | — | uncertain significance |
| rs199507729 | 8:26,481,806 | C/T | — | uncertain significance |
| rs139123217 | 8:26,481,822 | C/T | — | likely benign |
| rs111686178 | 8:26,484,172 | G/A | — | likely benign |
| rs2535991454 | 8:26,484,761 | A/G | — | uncertain significance |
| rs773335767 | 8:26,484,796 | C/T | — | likely benign |
| rs762997682 | 8:26,484,797 | G/A | — | uncertain significance |
| rs771070678 | 8:26,485,446 | G/A | — | uncertain significance |
| rs11995227 | 8:26,486,255 | C/T | regulatory region variant | — |
| rs7832576 | 8:26,486,742 | A/G | intron variant | — |
| rs1273538485 | 8:26,492,302 | G/A | — | uncertain significance |
| rs35621323 | 8:26,492,331 | C/T | — | benign |
| rs373662465 | 8:26,492,336 | A/G | — | uncertain significance |
| rs199869101 | 8:26,500,997 | C/T | — | uncertain significance |
| rs200846358 | 8:26,500,998 | G/C | — | likely benign |
| rs372408415 | 8:26,501,018 | G/A | — | uncertain significance |
| rs375095984 | 8:26,501,050 | A/G | — | uncertain significance |
| rs144132241 | 8:26,501,492 | C/G | — | uncertain significance |
| rs113213704 | 8:26,501,493 | C/G | — | benign |
| rs1426641738 | 8:26,501,501 | C/T | — | uncertain significance |
| rs769218672 | 8:26,501,524 | G/A | — | uncertain significance |
| rs2536010450 | 8:26,501,552 | C/T | — | uncertain significance |
| rs748609195 | 8:26,505,275 | C/T | — | uncertain significance |
| rs915186717 | 8:26,505,278 | G/A | — | uncertain significance |
| rs151050891 | 8:26,505,283 | C/T | — | benign |
| rs139163162 | 8:26,505,307 | A/C | — | likely benign |
| rs548249708 | 8:26,509,788 | A/G | — | likely benign |
| rs779134278 | 8:26,509,809 | C/T | — | uncertain significance |
| rs2536019370 | 8:26,509,901 | C/G | — | likely benign |
| rs145483702 | 8:26,510,739 | G/A | — | benign |
| rs2536020748 | 8:26,510,756 | G/T | — | uncertain significance |
| rs1803318114 | 8:26,510,866 | A/G | — | uncertain significance |
| rs754473738 | 8:26,513,168 | C/G | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.