NCKIPSD
NCK interacting protein with SH3 domain
Summary
The protein encoded by this gene contains a nuclear localization signal. It plays a role in signal transduction, and may function in the maintenance of sarcomeres and in the assembly of myofibrils into sarcomeres. It also plays an important role in stress fiber formation This protein is involved in the formation and maintenance of dendritic spines, and modulates synaptic activity in neurons. The gene is involved in therapy-related leukemia by a chromosomal translocation t(3;11)(p21;q23) that involves this gene and the myeloid/lymphoid leukemia gene. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Aug 2019]
Known Variants50 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs762789060 | 3:48,712,036 | G/A | — | uncertain significance |
| rs2531649243 | 3:48,712,047 | C/T | — | uncertain significance |
| rs774308471 | 3:48,712,050 | T/C | — | uncertain significance |
| rs199533994 | 3:48,712,104 | G/C | — | uncertain significance |
| rs749475274 | 3:48,712,111 | G/A | — | uncertain significance |
| rs2531649493 | 3:48,712,145 | T/C | — | uncertain significance |
| rs142134638 | 3:48,712,147 | T/C | — | likely benign |
| rs761499319 | 3:48,712,153 | G/A | — | uncertain significance |
| rs569145688 | 3:48,716,020 | C/T | — | uncertain significance |
| rs36059909 | 3:48,716,029 | G/A | — | uncertain significance |
| rs764631624 | 3:48,716,091 | C/T | — | uncertain significance |
| rs754798897 | 3:48,716,127 | T/G | — | uncertain significance |
| rs138069597 | 3:48,716,157 | C/A | — | uncertain significance |
| rs142659579 | 3:48,716,361 | C/T | — | likely benign |
| rs370157632 | 3:48,716,390 | T/C | — | uncertain significance |
| rs749811963 | 3:48,716,503 | T/G | — | uncertain significance |
| rs369165812 | 3:48,717,013 | G/A | — | uncertain significance |
| rs34397126 | 3:48,717,117 | G/A | — | benign |
| rs750563707 | 3:48,717,136 | G/A | — | likely benign |
| rs987176445 | 3:48,717,252 | C/G | — | uncertain significance |
| rs201067488 | 3:48,717,275 | C/T | — | uncertain significance |
| rs951260924 | 3:48,717,529 | A/G | — | uncertain significance |
| rs750092124 | 3:48,717,568 | G/A | — | uncertain significance |
| rs573286934 | 3:48,717,581 | G/A | — | uncertain significance |
| rs749769712 | 3:48,717,590 | G/C | — | uncertain significance |
| rs775481761 | 3:48,717,628 | C/G | — | uncertain significance |
| rs9821797 | 3:48,718,253 | T/A | intron variant | — |
| rs137864991 | 3:48,718,827 | C/T | — | uncertain significance |
| rs145845468 | 3:48,718,851 | G/A | — | uncertain significance |
| rs201087621 | 3:48,718,931 | C/A | — | uncertain significance |
| rs775951885 | 3:48,719,081 | G/C | — | uncertain significance |
| rs776642670 | 3:48,719,190 | C/T | — | uncertain significance |
| rs545085136 | 3:48,719,204 | T/G | — | uncertain significance |
| rs762870716 | 3:48,719,205 | T/C | — | uncertain significance |
| rs756971016 | 3:48,719,505 | G/A | — | uncertain significance |
| rs150917205 | 3:48,719,510 | C/T | — | uncertain significance |
| rs753095788 | 3:48,719,553 | G/A | — | uncertain significance |
| rs1467971530 | 3:48,719,791 | C/T | — | uncertain significance |
| rs989196763 | 3:48,719,822 | G/C | — | uncertain significance |
| rs561455784 | 3:48,719,829 | G/C | — | uncertain significance |
| rs150324090 | 3:48,719,858 | C/A | — | uncertain significance |
| rs138464725 | 3:48,719,936 | C/A | — | uncertain significance |
| rs2077371306 | 3:48,719,947 | C/T | — | uncertain significance |
| rs755813006 | 3:48,719,950 | C/T | — | uncertain significance |
| rs940371098 | 3:48,719,968 | C/T | — | uncertain significance |
| rs2531669486 | 3:48,719,978 | T/C | — | uncertain significance |
| rs375304871 | 3:48,720,450 | G/C | — | likely benign |
| rs1269210554 | 3:48,723,104 | C/T | — | uncertain significance |
| rs6792510 | 3:48,723,302 | G/T | — | — |
| rs188551769 | 3:48,723,459 | G/T | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.