PKMYT1
protein kinase, membrane associated tyrosine/threonine 1
Summary
This gene encodes a member of the serine/threonine protein kinase family. The encoded protein is a membrane-associated kinase that negatively regulates the G2/M transition of the cell cycle by phosphorylating and inactivating cyclin-dependent kinase 1. The activity of the encoded protein is regulated by polo-like kinase 1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
Known Variants47 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs150747918 | 16:3,022,997 | C/T | — | uncertain significance |
| rs113543932 | 16:3,023,158 | G/A | — | uncertain significance |
| rs886427 | 16:3,023,605 | A/G | regulatory region variant | — |
| rs200656682 | 16:3,024,011 | C/G | — | uncertain significance |
| rs142745280 | 16:3,024,025 | C/A | — | uncertain significance |
| rs2506116706 | 16:3,024,046 | A/C | — | uncertain significance |
| rs772583127 | 16:3,024,058 | G/A | — | uncertain significance |
| rs1475346074 | 16:3,024,073 | G/C | — | uncertain significance |
| rs2072105325 | 16:3,024,125 | C/T | — | uncertain significance |
| rs2506119064 | 16:3,024,262 | C/A | — | uncertain significance |
| rs57834465 | 16:3,024,281 | C/T | — | uncertain significance |
| rs774505134 | 16:3,024,287 | T/A | — | uncertain significance |
| rs759793541 | 16:3,024,289 | C/T | — | likely benign |
| rs376340331 | 16:3,024,310 | C/T | — | uncertain significance |
| rs2506120130 | 16:3,024,341 | G/C | — | uncertain significance |
| rs1158419991 | 16:3,024,352 | G/A | — | uncertain significance |
| rs2506120677 | 16:3,024,385 | A/G | — | uncertain significance |
| rs371396451 | 16:3,024,395 | C/T | — | uncertain significance |
| rs201597909 | 16:3,024,400 | C/T | — | uncertain significance |
| rs746360176 | 16:3,025,407 | C/T | — | uncertain significance |
| rs377489890 | 16:3,025,471 | G/T | — | uncertain significance |
| rs370010108 | 16:3,025,486 | G/C | — | uncertain significance |
| rs2506129394 | 16:3,025,536 | A/T | — | uncertain significance |
| rs369663008 | 16:3,025,549 | G/A | — | uncertain significance |
| rs4149797 | 16:3,025,552 | G/A | — | benign |
| rs1184558119 | 16:3,025,570 | C/T | — | uncertain significance |
| rs564993872 | 16:3,025,575 | G/A | — | uncertain significance |
| rs372008941 | 16:3,025,632 | G/A | — | uncertain significance |
| rs779843901 | 16:3,025,678 | G/A | — | uncertain significance |
| rs768670303 | 16:3,025,690 | G/A | — | uncertain significance |
| rs776868886 | 16:3,025,691 | G/C | — | uncertain significance |
| rs139434266 | 16:3,025,740 | C/T | — | uncertain significance |
| rs150058868 | 16:3,025,767 | A/C | — | uncertain significance |
| rs1411441085 | 16:3,025,773 | C/T | — | uncertain significance |
| rs2506131434 | 16:3,025,803 | T/C | — | uncertain significance |
| rs747195888 | 16:3,026,700 | G/A | — | uncertain significance |
| rs2506135921 | 16:3,026,708 | C/T | — | uncertain significance |
| rs766358175 | 16:3,026,789 | C/T | — | uncertain significance |
| rs2072208135 | 16:3,026,817 | G/C | — | uncertain significance |
| rs554702940 | 16:3,026,882 | G/A | — | uncertain significance |
| rs375676053 | 16:3,026,898 | G/C | — | uncertain significance |
| rs747789800 | 16:3,026,945 | C/T | — | uncertain significance |
| rs769593499 | 16:3,026,946 | G/A | — | uncertain significance |
| rs774323517 | 16:3,026,973 | T/C | — | uncertain significance |
| rs921316810 | 16:3,026,990 | G/A | — | uncertain significance |
| rs747806130 | 16:3,027,029 | G/A | — | uncertain significance |
| rs575896748 | 16:3,032,041 | T/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.