PXK
PX domain containing serine/threonine kinase like
Summary
This gene encodes a phox (PX) domain-containing protein which may be involved in synaptic transmission and the ligand-induced internalization and degradation of epidermal growth factors. Variations in this gene may be associated with susceptibility to systemic lupus erythematosus (SLE). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Known Variants50 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs13082844 | 3:58,318,261 | G/C | — | — |
| rs180977001 | 3:58,318,464 | A/C | regulatory region variant | — |
| rs36037390 | 3:58,321,954 | C/A | — | — |
| rs9822855 | 3:58,327,540 | T/A | — | — |
| rs2176082 | 3:58,331,186 | G/A | intron variant | — |
| rs146317210 | 3:58,334,538 | G/T | intron variant | — |
| rs13067940 | 3:58,335,210 | G/C | intron variant | — |
| rs12629058 | 3:58,338,809 | C/A | — | — |
| rs751841022 | 3:58,344,149 | G/A | — | — |
| rs6775517 | 3:58,358,967 | G/A | — | — |
| rs375318244 | 3:58,368,247 | G/A | — | uncertain significance |
| rs770219681 | 3:58,368,346 | A/T | — | uncertain significance |
| rs6445975 | 3:58,370,177 | G/T | regulatory region variant | — |
| rs13071861 | 3:58,371,332 | C/A | — | — |
| rs563431181 | 3:58,372,397 | A/G | — | — |
| rs7610312 | 3:58,374,029 | A/G | regulatory region variant | — |
| rs55704295 | 3:58,375,406 | A/C | — | — |
| rs9879870 | 3:58,375,575 | A/G | intron variant | — |
| rs6772228 | 3:58,376,019 | T/A | intron variant | — |
| rs2473576506 | 3:58,376,309 | A/G | — | uncertain significance |
| rs1363158507 | 3:58,376,312 | T/A | — | uncertain significance |
| rs745755795 | 3:58,376,350 | C/T | — | uncertain significance |
| rs55962533 | 3:58,376,938 | A/G | — | benign |
| rs35592368 | 3:58,377,527 | T/A | — | uncertain significance |
| rs56401437 | 3:58,377,562 | G/A | — | likely benign |
| rs13315871 | 3:58,381,287 | G/A | intron variant | — |
| rs2473752806 | 3:58,381,394 | A/C | — | uncertain significance |
| rs377744341 | 3:58,383,365 | C/T | — | uncertain significance |
| rs201628646 | 3:58,383,435 | C/T | — | uncertain significance |
| rs2473836705 | 3:58,383,447 | T/C | — | uncertain significance |
| rs143160176 | 3:58,385,098 | A/G | — | uncertain significance |
| rs4560319 | 3:58,386,274 | C/G | — | — |
| rs139370668 | 3:58,389,461 | C/T | regulatory region variant | — |
| rs752794169 | 3:58,389,599 | G/A | — | uncertain significance |
| rs781470461 | 3:58,389,632 | T/G | — | uncertain significance |
| rs9844432 | 3:58,391,293 | C/G | intron variant | — |
| rs140556006 | 3:58,395,272 | G/A | — | uncertain significance |
| rs140203295 | 3:58,395,842 | A/T | — | benign |
| rs56384862 | 3:58,395,863 | A/G | missense variant | — |
| rs2470970969 | 3:58,398,628 | C/G | — | uncertain significance |
| rs9869276 | 3:58,401,076 | G/A | intron variant | — |
| rs11708895 | 3:58,403,042 | T/C | intron variant | — |
| rs55783924 | 3:58,403,610 | C/T | intron variant | — |
| rs28709068 | 3:58,405,200 | G/C | — | — |
| rs755110801 | 3:58,410,509 | C/G | — | uncertain significance |
| rs2062602283 | 3:58,410,548 | C/A | — | uncertain significance |
| rs34579268 | 3:58,410,554 | C/G | missense variant | — |
| rs773826594 | 3:58,410,569 | C/T | — | likely benign |
| rs138144401 | 3:58,410,593 | G/A | — | uncertain significance |
| rs376301093 | 3:58,410,635 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.