PACSIN2
protein kinase C and casein kinase substrate in neurons 2
Summary
This gene is a member of the protein kinase C and casein kinase substrate in neurons family. The encoded protein is involved in linking the actin cytoskeleton with vesicle formation by regulating tubulin polymerization. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
Known Variants46 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1285871017 | 22:43,267,421 | C/T | — | uncertain significance |
| rs748881853 | 22:43,267,449 | C/T | — | uncertain significance |
| rs2517954462 | 22:43,267,463 | G/C | — | uncertain significance |
| rs1602154100 | 22:43,267,469 | T/C | — | uncertain significance |
| rs2092665 | 22:43,270,877 | A/G | intron variant | — |
| rs768766374 | 22:43,272,205 | A/G | — | uncertain significance |
| rs759580382 | 22:43,272,217 | G/A | — | uncertain significance |
| rs372279770 | 22:43,272,262 | G/A | — | uncertain significance |
| rs369451109 | 22:43,272,302 | C/A | — | uncertain significance |
| rs925126352 | 22:43,272,310 | T/C | — | uncertain significance |
| rs754553127 | 22:43,272,326 | C/T | — | uncertain significance |
| rs2517973098 | 22:43,272,921 | C/G | — | uncertain significance |
| rs767918786 | 22:43,275,069 | G/A | — | uncertain significance |
| rs371865681 | 22:43,278,297 | A/T | — | uncertain significance |
| rs746875375 | 22:43,278,305 | T/G | — | likely benign |
| rs9607978 | 22:43,284,334 | G/C | — | — |
| rs373959797 | 22:43,286,997 | C/T | — | uncertain significance |
| rs368074486 | 22:43,286,998 | G/A | — | likely benign |
| rs775794255 | 22:43,287,027 | C/T | — | uncertain significance |
| rs771924642 | 22:43,287,152 | G/T | — | uncertain significance |
| rs201034705 | 22:43,287,153 | C/T | — | uncertain significance |
| rs117923688 | 22:43,287,171 | C/G | — | uncertain significance |
| rs199901520 | 22:43,287,173 | G/A | — | uncertain significance |
| rs752420359 | 22:43,287,177 | C/T | — | uncertain significance |
| rs756372354 | 22:43,289,592 | G/A | — | uncertain significance |
| rs2413728 | 22:43,292,380 | T/C | intron variant | — |
| rs738383 | 22:43,315,393 | T/C | regulatory region variant | — |
| rs12106550 | 22:43,336,637 | T/G | regulatory region variant | — |
| rs4822235 | 22:43,338,090 | T/C | intron variant | — |
| rs5759054 | 22:43,348,178 | C/T | intron variant | — |
| rs183765623 | 22:43,348,749 | A/G | intron variant | — |
| rs78225773 | 22:43,358,340 | T/C | regulatory region variant | — |
| rs4822237 | 22:43,364,655 | G/C | — | — |
| rs5759067 | 22:43,372,799 | T/C | intron variant | — |
| rs8137128 | 22:43,385,996 | A/G | — | — |
| rs3819677 | 22:43,386,691 | C/T | — | — |
| rs972578 | 22:43,387,695 | G/A | — | — |
| rs2899366 | 22:43,392,277 | C/T | — | — |
| rs5759080 | 22:43,393,940 | C/G | — | — |
| rs2256040 | 22:43,398,049 | C/G | — | — |
| rs28548889 | 22:43,403,018 | G/A | regulatory region variant | — |
| rs5759088 | 22:43,405,871 | A/G | — | — |
| rs549004217 | 22:43,406,086 | G/A | — | — |
| rs9611984 | 22:43,408,562 | C/T | intron variant | — |
| rs76947229 | 22:43,410,328 | A/T | — | — |
| rs7290470 | 22:43,412,640 | C/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.