SKAP1
src kinase associated phosphoprotein 1
Summary
This gene encodes a T cell adaptor protein, a class of intracellular molecules with modular domains capable of recruiting additional proteins but that exhibit no intrinsic enzymatic activity. The encoded protein contains a unique N-terminal region followed by a PH domain and C-terminal SH3 domain. Along with the adhesion and degranulation-promoting adaptor protein, the encoded protein plays a critical role in inside-out signaling by coupling T-cell antigen receptor stimulation to the activation of integrins. [provided by RefSeq, Jul 2008]
Known Variants45 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs10445377 | 17:46,214,168 | C/T | intron variant | — |
| rs772095586 | 17:46,214,612 | C/T | — | uncertain significance |
| rs763142121 | 17:46,214,658 | G/C | — | uncertain significance |
| rs182305 | 17:46,234,984 | C/T | upstream gene variant | — |
| rs67446770 | 17:46,235,745 | A/C | upstream gene variant | — |
| rs559612720 | 17:46,238,735 | T/C | — | — |
| rs146750859 | 17:46,239,844 | C/T | — | uncertain significance |
| rs148912908 | 17:46,239,857 | C/T | — | uncertain significance |
| rs368166369 | 17:46,239,859 | C/T | — | uncertain significance |
| rs536068830 | 17:46,239,878 | C/T | — | uncertain significance |
| rs7225484 | 17:46,248,088 | T/C | intron variant | — |
| rs955198177 | 17:46,257,524 | A/C | — | uncertain significance |
| rs758322592 | 17:46,259,767 | A/G | — | uncertain significance |
| rs146842117 | 17:46,259,769 | A/C | — | uncertain significance |
| rs750065617 | 17:46,262,110 | G/A | — | uncertain significance |
| rs755689431 | 17:46,262,137 | G/A | — | uncertain significance |
| rs765964736 | 17:46,262,194 | C/T | — | uncertain significance |
| rs368601769 | 17:46,265,270 | G/A | — | uncertain significance |
| rs11650182 | 17:46,272,609 | A/G | downstream gene variant | — |
| rs56102744 | 17:46,282,399 | T/G | — | — |
| rs2325885 | 17:46,290,375 | C/T | intron variant | — |
| rs882380 | 17:46,294,236 | C/G | — | — |
| rs16954078 | 17:46,306,127 | T/A | regulatory region variant | — |
| rs201199881 | 17:46,317,206 | G/C | — | — |
| rs2060876 | 17:46,322,966 | G/A | intron variant | — |
| rs16954324 | 17:46,324,584 | C/T | regulatory region variant | — |
| rs2084881 | 17:46,357,120 | G/A | intron variant | — |
| rs74631399 | 17:46,373,182 | C/T | regulatory region variant | — |
| rs16955463 | 17:46,399,497 | G/T | regulatory region variant | — |
| rs72827832 | 17:46,407,108 | C/T | — | — |
| rs9303542 | 17:46,411,500 | A/G | intron variant | — |
| rs185055152 | 17:46,415,686 | A/G | intron variant | — |
| rs758537059 | 17:46,423,297 | C/T | — | uncertain significance |
| rs377081667 | 17:46,423,300 | C/T | — | uncertain significance |
| rs376131521 | 17:46,423,352 | C/A | — | uncertain significance |
| rs114223532 | 17:46,423,359 | A/G | — | uncertain significance |
| rs9906651 | 17:46,434,993 | G/A | intron variant | — |
| rs2544525996 | 17:46,441,164 | A/C | — | uncertain significance |
| rs12948086 | 17:46,481,407 | C/T | intron variant | — |
| rs7218287 | 17:46,502,337 | T/A | intron variant | — |
| rs78035627 | 17:46,506,453 | C/T | intron variant | — |
| rs1699881550 | 17:46,507,455 | T/A | — | uncertain significance |
| rs7212325 | 17:46,512,388 | C/T | upstream gene variant | — |
| rs7211636 | 17:46,512,688 | G/T | intergenic variant | — |
| rs9747116 | 17:46,521,144 | G/A | intergenic variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.