PXN
paxillin
Summary
This gene encodes a cytoskeletal protein involved in actin-membrane attachment at sites of cell adhesion to the extracellular matrix (focal adhesion). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. These isoforms exhibit different expression pattern, and have different biochemical, as well as physiological properties (PMID:9054445). [provided by RefSeq, Aug 2011]
Known Variants56 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2504066264 | 12:120,650,269 | T/C | — | uncertain significance |
| rs1191637511 | 12:120,650,271 | G/A | — | uncertain significance |
| rs759628249 | 12:120,650,286 | G/A | — | uncertain significance |
| rs25663 | 12:120,650,372 | C/T | — | benign |
| rs201447644 | 12:120,651,676 | G/A | — | uncertain significance |
| rs747281175 | 12:120,651,683 | G/A | — | uncertain significance |
| rs372866217 | 12:120,651,760 | C/G | — | uncertain significance |
| rs748158341 | 12:120,651,785 | C/T | — | uncertain significance |
| rs777813484 | 12:120,652,013 | A/G | — | uncertain significance |
| rs146100624 | 12:120,652,642 | C/T | — | uncertain significance |
| rs25662 | 12:120,652,658 | G/A | — | benign |
| rs61748077 | 12:120,652,698 | G/A | — | uncertain significance |
| rs775978522 | 12:120,652,726 | G/A | — | uncertain significance |
| rs186612390 | 12:120,652,811 | A/C | — | benign |
| rs114085181 | 12:120,652,898 | C/T | — | benign |
| rs763910021 | 12:120,652,935 | C/T | — | uncertain significance |
| rs2504176523 | 12:120,653,000 | A/G | — | uncertain significance |
| rs200855138 | 12:120,653,371 | C/T | — | uncertain significance |
| rs766685763 | 12:120,653,440 | C/T | — | uncertain significance |
| rs755244333 | 12:120,653,442 | G/A | — | uncertain significance |
| rs201566328 | 12:120,653,458 | C/G | — | uncertain significance |
| rs752094289 | 12:120,659,442 | G/A | — | uncertain significance |
| rs1411670320 | 12:120,659,455 | C/T | — | uncertain significance |
| rs1290008793 | 12:120,659,488 | T/C | — | uncertain significance |
| rs375590100 | 12:120,659,557 | C/T | — | uncertain significance |
| rs370265197 | 12:120,660,353 | C/T | — | uncertain significance |
| rs770602443 | 12:120,660,400 | C/G | — | uncertain significance |
| rs550755068 | 12:120,660,424 | C/T | — | uncertain significance |
| rs758443158 | 12:120,660,437 | G/A | — | uncertain significance |
| rs537028610 | 12:120,660,443 | G/C | — | uncertain significance |
| rs373413751 | 12:120,660,454 | G/A | — | uncertain significance |
| rs766445393 | 12:120,660,532 | G/C | — | uncertain significance |
| rs759679585 | 12:120,660,536 | G/A | — | uncertain significance |
| rs2504521836 | 12:120,660,548 | C/T | — | uncertain significance |
| rs188297788 | 12:120,660,557 | G/C | — | likely benign |
| rs774463797 | 12:120,660,724 | G/A | — | likely benign |
| rs561227657 | 12:120,660,752 | G/A | — | uncertain significance |
| rs201116189 | 12:120,660,773 | G/A | — | uncertain significance |
| rs1201330351 | 12:120,660,792 | T/G | — | uncertain significance |
| rs1387388078 | 12:120,661,552 | A/G | — | likely benign |
| rs774010199 | 12:120,661,594 | A/T | — | uncertain significance |
| rs375675842 | 12:120,661,612 | C/T | — | uncertain significance |
| rs370552709 | 12:120,661,621 | G/A | — | uncertain significance |
| rs556617318 | 12:120,661,970 | C/T | — | uncertain significance |
| rs775232309 | 12:120,662,004 | C/A | — | uncertain significance |
| rs767722707 | 12:120,662,042 | G/T | — | uncertain significance |
| rs191081138 | 12:120,662,049 | C/T | — | uncertain significance |
| rs141848390 | 12:120,662,077 | T/C | — | benign |
| rs375818119 | 12:120,662,078 | G/A | — | uncertain significance |
| rs570642293 | 12:120,662,094 | G/C | — | uncertain significance |
| rs202176482 | 12:120,662,127 | C/T | — | uncertain significance |
| rs79571853 | 12:120,675,017 | A/T | — | — |
| rs77030072 | 12:120,692,179 | C/T | intron variant | — |
| rs1182859 | 12:120,693,288 | A/G | intron variant | — |
| rs554302628 | 12:120,695,380 | A/G | — | — |
| rs112863429 | 12:120,703,715 | G/C | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.