NCK1
NCK adaptor protein 1
Summary
The protein encoded by this gene is one of the signaling and transforming proteins containing Src homology 2 and 3 (SH2 and SH3) domains. It is located in the cytoplasm and is an adaptor protein involved in transducing signals from receptor tyrosine kinases to downstream signal recipients such as RAS. Alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Jun 2010]
Known Variants28 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs71630059 | 3:136,581,611 | G/A | regulatory region variant | — |
| rs938525 | 3:136,581,953 | C/G | — | — |
| rs55650043 | 3:136,588,893 | A/T | — | — |
| rs62410436 | 3:136,597,549 | C/A | — | — |
| rs13077864 | 3:136,609,838 | T/C | intron variant | — |
| rs4678272 | 3:136,610,630 | G/C | — | — |
| rs4678273 | 3:136,610,633 | A/G | — | — |
| rs1609391 | 3:136,615,268 | G/T | — | — |
| rs2176270 | 3:136,621,188 | T/C | upstream gene variant | — |
| rs9840500 | 3:136,621,338 | A/G | upstream gene variant | — |
| rs6800032 | 3:136,622,560 | C/T | upstream gene variant | — |
| rs9833022 | 3:136,632,122 | C/T | intron variant | — |
| rs2117009 | 3:136,633,571 | A/T | intron variant | — |
| rs9879531 | 3:136,638,975 | A/G | regulatory region variant | — |
| rs1402063791 | 3:136,647,022 | A/G | — | uncertain significance |
| rs537275699 | 3:136,647,031 | G/A | — | uncertain significance |
| rs775351154 | 3:136,664,589 | A/G | — | uncertain significance |
| rs762533477 | 3:136,664,631 | C/T | — | uncertain significance |
| rs768735016 | 3:136,664,694 | A/G | — | uncertain significance |
| rs778474804 | 3:136,664,710 | A/G | — | uncertain significance |
| rs1940805431 | 3:136,664,752 | A/C | — | uncertain significance |
| rs72978714 | 3:136,664,970 | G/C | — | benign |
| rs868431322 | 3:136,665,015 | C/T | — | uncertain significance |
| rs148197442 | 3:136,667,116 | G/A | — | uncertain significance |
| rs767138188 | 3:136,667,134 | G/A | — | uncertain significance |
| rs1169297189 | 3:136,667,160 | A/T | — | uncertain significance |
| rs768967319 | 3:136,667,206 | A/T | — | uncertain significance |
| rs1342717224 | 3:136,667,222 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.