ATXN2L
ataxin 2 like
Summary
This gene encodes an ataxin type 2 related protein of unknown function. This protein is a member of the spinocerebellar ataxia (SCAs) family, which is associated with a complex group of neurodegenerative disorders. Several alternatively spliced transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants60 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs75139976 | 16:28,834,539 | C/G | — | — |
| rs780877641 | 16:28,834,602 | C/A | — | uncertain significance |
| rs372829216 | 16:28,834,632 | C/A | — | uncertain significance |
| rs772096309 | 16:28,834,668 | G/T | — | conflicting classifications of pathogenicity |
| rs773476957 | 16:28,834,690 | G/A | — | uncertain significance |
| rs2543536019 | 16:28,834,711 | C/A | — | uncertain significance |
| rs948524340 | 16:28,834,779 | A/G | — | uncertain significance |
| rs2050321844 | 16:28,834,804 | G/A | — | uncertain significance |
| rs2543884070 | 16:28,836,970 | C/G | — | uncertain significance |
| rs11864931 | 16:28,837,009 | G/A | — | benign |
| rs62036622 | 16:28,837,203 | T/G | downstream gene variant | — |
| rs8049439 | 16:28,837,515 | T/G | — | — |
| rs2543969244 | 16:28,837,579 | G/A | — | uncertain significance |
| rs142953622 | 16:28,837,588 | C/T | — | uncertain significance |
| rs1163493993 | 16:28,837,618 | C/T | — | uncertain significance |
| rs201982360 | 16:28,838,186 | A/G | — | uncertain significance |
| rs2544040669 | 16:28,838,211 | G/A | — | uncertain significance |
| rs2544042662 | 16:28,838,254 | C/T | — | uncertain significance |
| rs1275626613 | 16:28,838,255 | G/T | — | uncertain significance |
| rs72793811 | 16:28,839,392 | G/T | — | — |
| rs78613234 | 16:28,839,425 | T/C | downstream gene variant | — |
| rs62036624 | 16:28,839,930 | G/T | downstream gene variant | — |
| rs72793812 | 16:28,840,381 | A/G | downstream gene variant | — |
| rs150226050 | 16:28,841,222 | G/C | — | uncertain significance |
| rs201137100 | 16:28,841,274 | G/A | — | uncertain significance |
| rs1267303909 | 16:28,841,282 | A/G | — | uncertain significance |
| rs1596911741 | 16:28,841,289 | T/C | — | uncertain significance |
| rs2544289030 | 16:28,841,331 | C/T | — | uncertain significance |
| rs1001625427 | 16:28,841,355 | G/A | — | uncertain significance |
| rs187434765 | 16:28,841,965 | G/A | — | uncertain significance |
| rs200000355 | 16:28,842,015 | G/A | — | uncertain significance |
| rs1458389453 | 16:28,842,052 | C/T | — | uncertain significance |
| rs1009258367 | 16:28,842,360 | T/C | — | uncertain significance |
| rs755700917 | 16:28,842,370 | C/T | — | uncertain significance |
| rs150073438 | 16:28,843,606 | G/A | — | uncertain significance |
| rs148725729 | 16:28,843,618 | C/T | — | uncertain significance |
| rs2152071837 | 16:28,843,634 | C/G | — | uncertain significance |
| rs1375102623 | 16:28,843,649 | C/T | — | uncertain significance |
| rs2054813943 | 16:28,843,688 | C/G | — | uncertain significance |
| rs1346378685 | 16:28,843,829 | C/G | — | uncertain significance |
| rs147052305 | 16:28,843,841 | C/G | — | uncertain significance |
| rs62036657 | 16:28,844,365 | G/A | — | benign |
| rs138507497 | 16:28,844,546 | A/G | — | uncertain significance |
| rs564157371 | 16:28,844,627 | C/T | — | uncertain significance |
| rs150657551 | 16:28,844,760 | A/G | — | likely benign |
| rs761693050 | 16:28,844,788 | A/C | — | uncertain significance |
| rs2055287397 | 16:28,844,790 | T/C | — | likely benign |
| rs2152097288 | 16:28,845,511 | C/G | — | uncertain significance |
| rs1019808198 | 16:28,845,519 | G/C | — | uncertain significance |
| rs2544614052 | 16:28,845,521 | C/T | — | uncertain significance |
| rs73529506 | 16:28,845,993 | C/T | — | benign |
| rs776657733 | 16:28,846,394 | A/T | — | uncertain significance |
| rs1960021139 | 16:28,846,637 | C/T | — | uncertain significance |
| rs137943525 | 16:28,846,877 | C/T | — | uncertain significance |
| rs763039872 | 16:28,846,994 | G/A | — | uncertain significance |
| rs772084546 | 16:28,847,050 | G/A | — | uncertain significance |
| rs12928404 | 16:28,847,246 | T/C | splice region variant | — |
| rs765799433 | 16:28,847,368 | G/A | — | uncertain significance |
| rs761306397 | 16:28,847,477 | G/A | — | uncertain significance |
| rs147536062 | 16:28,847,491 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.