CDC42BPA
CDC42 binding protein kinase alpha
Summary
The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase contains multiple functional domains. Its kinase domain is highly similar to that of the myotonic dystrophy protein kinase (DMPK). This kinase also contains a Rac interactive binding (CRIB) domain, and has been shown to bind CDC42. It may function as a CDC42 downstream effector mediating CDC42 induced peripheral actin formation, and promoting cytoskeletal reorganization. Multiple alternatively spliced transcript variants have been described. [provided by RefSeq, Sep 2018]
Known Variants93 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3768421 | 1:227,177,193 | G/A | downstream gene variant | — |
| rs145018031 | 1:227,182,024 | C/T | — | uncertain significance |
| rs545978830 | 1:227,182,031 | A/T | — | uncertain significance |
| rs777019251 | 1:227,182,042 | G/C | — | uncertain significance |
| rs540511213 | 1:227,182,087 | G/A | — | uncertain significance |
| rs2528540749 | 1:227,182,100 | C/T | — | uncertain significance |
| rs772385104 | 1:227,182,598 | G/T | — | uncertain significance |
| rs369962125 | 1:227,182,615 | C/T | — | uncertain significance |
| rs2528566467 | 1:227,182,622 | C/A | — | uncertain significance |
| rs904725867 | 1:227,182,673 | C/T | — | uncertain significance |
| rs16846779 | 1:227,182,674 | G/A | — | benign |
| rs6677602 | 1:227,187,838 | G/T | — | — |
| rs17528077 | 1:227,192,280 | T/C | intron variant | — |
| rs1929863 | 1:227,195,728 | C/T | intron variant | — |
| rs61834001 | 1:227,197,411 | C/T | intron variant | — |
| rs6665290 | 1:227,201,106 | C/G | — | — |
| rs56029302 | 1:227,203,390 | G/A | intron variant | — |
| rs201852267 | 1:227,204,673 | C/T | — | uncertain significance |
| rs571684122 | 1:227,204,709 | C/T | — | uncertain significance |
| rs146136586 | 1:227,211,032 | T/C | — | likely benign |
| rs756148552 | 1:227,213,761 | T/G | — | uncertain significance |
| rs1308173441 | 1:227,213,766 | G/A | — | uncertain significance |
| rs142853761 | 1:227,213,831 | C/T | — | likely benign |
| rs758916289 | 1:227,213,832 | G/A | — | uncertain significance |
| rs7549586 | 1:227,214,566 | A/G | intron variant | — |
| rs142464333 | 1:227,216,363 | G/C | — | uncertain significance |
| rs369641713 | 1:227,216,408 | C/T | — | uncertain significance |
| rs1470389163 | 1:227,216,567 | T/C | — | uncertain significance |
| rs201775243 | 1:227,216,715 | G/C | — | uncertain significance |
| rs368664811 | 1:227,216,814 | C/T | — | uncertain significance |
| rs778606955 | 1:227,216,840 | A/G | — | uncertain significance |
| rs267598394 | 1:227,216,862 | G/A | — | uncertain significance |
| rs146234275 | 1:227,218,179 | A/C | — | benign |
| rs961490 | 1:227,219,076 | C/T | — | benign |
| rs57244721 | 1:227,220,626 | C/T | intron variant | — |
| rs373550338 | 1:227,221,060 | C/T | — | uncertain significance |
| rs758131715 | 1:227,221,100 | C/T | — | uncertain significance |
| rs962674790 | 1:227,223,177 | C/G | — | uncertain significance |
| rs2529837322 | 1:227,223,192 | C/G | — | uncertain significance |
| rs35369012 | 1:227,223,208 | C/T | — | benign |
| rs1474655507 | 1:227,223,257 | C/T | — | uncertain significance |
| rs774306418 | 1:227,227,874 | A/C | — | uncertain significance |
| rs1022072765 | 1:227,227,906 | A/G | — | uncertain significance |
| rs140416725 | 1:227,227,936 | C/T | — | likely benign |
| rs10916082 | 1:227,252,626 | A/T | — | — |
| rs1460321551 | 1:227,257,494 | G/A | — | uncertain significance |
| rs373478290 | 1:227,257,498 | C/T | — | uncertain significance |
| rs1364435167 | 1:227,257,531 | G/C | — | uncertain significance |
| rs35017425 | 1:227,261,648 | C/T | — | likely benign |
| rs1260263011 | 1:227,268,655 | G/T | — | uncertain significance |
| rs2546243196 | 1:227,268,699 | T/A | — | uncertain significance |
| rs34943764 | 1:227,268,705 | T/C | — | likely benign |
| rs34708504 | 1:227,288,383 | C/T | intron variant | — |
| rs766336543 | 1:227,288,705 | G/T | — | likely benign |
| rs1327219853 | 1:227,288,814 | T/C | — | uncertain significance |
| rs2546534736 | 1:227,300,035 | T/C | — | uncertain significance |
| rs760207035 | 1:227,300,110 | G/A | — | uncertain significance |
| rs1239662964 | 1:227,300,114 | G/T | — | uncertain significance |
| rs756306937 | 1:227,300,431 | T/C | — | uncertain significance |
| rs754947527 | 1:227,300,460 | C/T | — | uncertain significance |
| rs77464064 | 1:227,301,610 | C/A | — | — |
| rs115823838 | 1:227,303,587 | C/T | intron variant | — |
| rs371811786 | 1:227,307,535 | C/T | — | likely benign |
| rs375140296 | 1:227,307,541 | G/C | — | uncertain significance |
| rs200713147 | 1:227,307,579 | C/T | — | uncertain significance |
| rs2546669553 | 1:227,316,875 | G/A | — | uncertain significance |
| rs7556248 | 1:227,320,893 | T/C | intron variant | — |
| rs10458379 | 1:227,325,273 | A/T | intron variant | — |
| rs370729750 | 1:227,327,411 | G/A | — | uncertain significance |
| rs752984714 | 1:227,327,412 | T/C | — | uncertain significance |
| rs368245135 | 1:227,327,442 | C/A | — | uncertain significance |
| rs147469048 | 1:227,333,195 | T/A | — | uncertain significance |
| rs762092933 | 1:227,333,258 | T/C | — | uncertain significance |
| rs2149674416 | 1:227,333,410 | G/A | — | uncertain significance |
| rs56311356 | 1:227,335,084 | T/C | — | benign |
| rs754167552 | 1:227,335,140 | T/C | — | uncertain significance |
| rs775595844 | 1:227,335,143 | A/T | — | uncertain significance |
| rs7418070 | 1:227,346,480 | C/T | intron variant | — |
| rs34614709 | 1:227,348,245 | G/A | — | benign |
| rs12063126 | 1:227,351,443 | A/T | — | — |
| rs12123597 | 1:227,353,481 | T/G | — | — |
| rs371745191 | 1:227,381,521 | T/C | — | uncertain significance |
| rs6671926 | 1:227,386,971 | G/A | intron variant | — |
| rs146827361 | 1:227,387,293 | T/C | — | uncertain significance |
| rs28492854 | 1:227,388,138 | C/A | — | — |
| rs1263333412 | 1:227,400,910 | A/G | — | uncertain significance |
| rs73096374 | 1:227,445,096 | G/A | intron variant | — |
| rs76132272 | 1:227,456,065 | C/T | upstream gene variant | — |
| rs112282634 | 1:227,463,672 | A/T | — | — |
| rs72632819 | 1:227,496,564 | G/T | intron variant | — |
| rs369190607 | 1:227,504,747 | G/A | — | uncertain significance |
| rs201862186 | 1:227,504,756 | T/C | — | uncertain significance |
| rs146651448 | 1:227,504,812 | C/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.