ANKRD17
ankyrin repeat domain 17
Summary
The protein encoded by this gene belongs to the family of ankyrin repeat-containing proteins, and contains two distinct arrays of ankyrin repeats in its amino-terminal region, one with 15 ankyrin repeats, and the other with 10 ankyrin repeats. It also contains a nuclear export signal, nuclear localization signal, and a cyclin-binding RXL motif. Localization of this protein to the nucleus has been shown experimentally, and interactions between this protein and cyclin-dependent kinase 2 have been observed. It has been suggested that this protein plays a role in both DNA replication and in both anti-viral and anti-bacterial innate immune pathways. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
Known Variants194 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs757445642 | 4:73,941,957 | C/G | — | uncertain significance |
| rs2530008604 | 4:73,941,961 | T/C | — | uncertain significance |
| rs1234362710 | 4:73,941,982 | T/C | — | uncertain significance |
| rs144043898 | 4:73,941,995 | G/T | — | uncertain significance |
| rs1293178841 | 4:73,942,665 | G/T | — | uncertain significance |
| rs2306058 | 4:73,942,678 | C/T | synonymous variant | association |
| rs140843867 | 4:73,942,680 | T/G | — | uncertain significance |
| rs2530017320 | 4:73,942,745 | A/G | — | uncertain significance |
| rs1953365097 | 4:73,943,155 | G/A | — | pathogenic |
| rs1196149362 | 4:73,943,189 | G/T | — | uncertain significance |
| rs1374134674 | 4:73,943,205 | T/G | — | uncertain significance |
| rs1721118591 | 4:73,943,250 | T/C | — | uncertain significance |
| rs2110086825 | 4:73,944,344 | G/A | — | likely benign |
| rs138897562 | 4:73,944,364 | T/C | — | uncertain significance |
| rs1721252244 | 4:73,944,374 | T/A | — | uncertain significance |
| rs1721255384 | 4:73,944,413 | T/C | — | uncertain significance |
| rs374167645 | 4:73,944,429 | A/T | — | uncertain significance |
| rs763113538 | 4:73,944,456 | T/G | — | uncertain significance |
| rs143161842 | 4:73,944,467 | G/C | — | likely pathogenic |
| rs914261571 | 4:73,944,520 | T/C | — | uncertain significance |
| rs748017210 | 4:73,944,548 | C/T | — | likely benign |
| rs201666060 | 4:73,944,592 | G/A | — | likely benign |
| rs2530093802 | 4:73,950,968 | T/C | — | uncertain significance |
| rs1240986426 | 4:73,951,064 | G/A | — | uncertain significance |
| rs2110121568 | 4:73,951,085 | G/A | — | uncertain significance |
| rs2530095802 | 4:73,951,106 | C/T | — | uncertain significance |
| rs368858376 | 4:73,951,111 | A/C | — | uncertain significance |
| rs534030909 | 4:73,951,151 | A/G | — | likely benign |
| rs1243065828 | 4:73,951,158 | C/T | — | uncertain significance |
| rs2530157060 | 4:73,956,382 | A/G | — | uncertain significance |
| rs772867509 | 4:73,956,498 | T/C | — | uncertain significance |
| rs146464946 | 4:73,956,500 | G/C | — | uncertain significance |
| rs140882985 | 4:73,956,507 | G/T | — | uncertain significance |
| rs1265878521 | 4:73,956,554 | G/A | — | uncertain significance |
| rs2530159472 | 4:73,956,561 | G/A | — | uncertain significance |
| rs1722731535 | 4:73,956,626 | G/C | — | likely pathogenic |
| rs758880182 | 4:73,956,744 | C/T | — | uncertain significance |
| rs1321186590 | 4:73,956,770 | G/A | — | uncertain significance |
| rs1202915754 | 4:73,956,771 | A/G | — | likely benign |
| rs769741144 | 4:73,956,783 | G/A | — | uncertain significance |
| rs775457215 | 4:73,956,786 | C/G | — | uncertain significance |
| rs534371235 | 4:73,956,891 | T/C | — | uncertain significance |
| rs370067052 | 4:73,956,932 | G/A | — | uncertain significance |
| rs749174957 | 4:73,956,953 | G/A | — | likely benign |
| rs138455716 | 4:73,956,957 | G/A | — | uncertain significance |
| rs771817535 | 4:73,956,968 | G/C | — | likely benign |
| rs200875539 | 4:73,957,044 | T/C | — | uncertain significance |
| rs573982313 | 4:73,957,067 | G/A | — | uncertain significance |
| rs1222123648 | 4:73,957,181 | A/G | — | uncertain significance |
| rs1722791436 | 4:73,957,185 | C/T | — | uncertain significance |
| rs1340733197 | 4:73,957,187 | C/T | — | uncertain significance |
| rs2530169428 | 4:73,957,193 | T/C | — | uncertain significance |
| rs78364977 | 4:73,957,410 | T/C | — | uncertain significance |
| rs369489419 | 4:73,957,425 | T/C | — | uncertain significance |
| rs2530172594 | 4:73,957,434 | T/C | — | uncertain significance |
| rs2530173604 | 4:73,957,519 | C/G | — | uncertain significance |
| rs2530173630 | 4:73,957,521 | T/G | — | uncertain significance |
| rs2530174493 | 4:73,957,577 | G/A | — | uncertain significance |
| rs1722833314 | 4:73,957,625 | C/A | — | uncertain significance |
| rs199530285 | 4:73,957,626 | T/C | — | uncertain significance |
| rs2110165980 | 4:73,957,707 | A/G | — | likely pathogenic |
| rs1722844359 | 4:73,957,754 | T/C | — | uncertain significance |
| rs757492754 | 4:73,957,769 | G/C | — | uncertain significance |
| rs2530177389 | 4:73,957,793 | G/A | — | uncertain significance |
| rs750848883 | 4:73,957,827 | C/T | — | uncertain significance |
| rs139064430 | 4:73,962,876 | C/T | — | uncertain significance |
| rs2530233929 | 4:73,962,895 | T/G | — | uncertain significance |
| rs149875573 | 4:73,962,942 | C/T | — | uncertain significance |
| rs774552486 | 4:73,962,976 | T/C | — | likely benign |
| rs56382488 | 4:73,963,297 | G/T | upstream gene variant | — |
| rs1723523011 | 4:73,963,787 | A/G | — | uncertain significance |
| rs2530247122 | 4:73,963,814 | G/C | — | uncertain significance |
| rs73827469 | 4:73,963,837 | T/C | — | benign |
| rs778139385 | 4:73,963,860 | T/C | — | uncertain significance |
| rs769360170 | 4:73,963,889 | G/A | — | uncertain significance |
| rs775522062 | 4:73,963,898 | T/C | — | uncertain significance |
| rs2530248925 | 4:73,963,949 | C/T | — | uncertain significance |
| rs754092303 | 4:73,963,966 | A/T | — | uncertain significance |
| rs1723542820 | 4:73,963,983 | C/A | — | likely pathogenic |
| rs1030226735 | 4:73,964,054 | T/C | — | uncertain significance |
| rs2530250322 | 4:73,964,081 | G/A | — | uncertain significance |
| rs748135097 | 4:73,964,235 | C/G | — | likely benign |
| rs2530252468 | 4:73,964,237 | T/C | — | uncertain significance |
| rs531657552 | 4:73,968,118 | T/C | — | likely benign |
| rs1381262048 | 4:73,968,123 | C/T | — | uncertain significance |
| rs550667769 | 4:73,968,134 | T/G | — | uncertain significance |
| rs1342015534 | 4:73,968,138 | A/G | — | uncertain significance |
| rs747649765 | 4:73,968,142 | C/A | — | uncertain significance |
| rs372433463 | 4:73,968,229 | C/T | — | likely benign |
| rs6818964 | 4:73,970,464 | C/G | — | — |
| rs2530587897 | 4:73,984,499 | T/C | — | uncertain significance |
| rs2148684587 | 4:73,984,502 | C/G | — | likely pathogenic |
| rs2148684659 | 4:73,984,519 | C/T | — | likely pathogenic |
| rs2148684710 | 4:73,984,527 | G/A | — | uncertain significance |
| rs779750024 | 4:73,984,556 | A/G | — | uncertain significance |
| rs749511206 | 4:73,985,928 | T/C | — | uncertain significance |
| rs1726543109 | 4:73,985,987 | T/A | — | uncertain significance |
| rs1446776205 | 4:73,985,990 | A/G | — | uncertain significance |
| rs139894750 | 4:73,986,010 | C/T | — | likely benign |
| rs2530633900 | 4:73,986,659 | C/G | — | uncertain significance |
Showing 100 of 194 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.