ULK2
unc-51 like autophagy activating kinase 2
Summary
This gene encodes a protein that is similar to a serine/threonine kinase in C. elegans which is involved in axonal elongation. The structure of this protein is similar to the C. elegans protein in that both proteins have an N-terminal kinase domain, a central proline/serine rich (PS) domain, and a C-terminal (C) domain. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Dec 2008]
Known Variants63 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs780278419 | 17:19,679,673 | C/T | — | uncertain significance |
| rs141459584 | 17:19,679,693 | G/A | — | uncertain significance |
| rs17720749 | 17:19,680,164 | A/C | intron variant | — |
| rs1250395134 | 17:19,680,993 | T/C | — | uncertain significance |
| rs2544641091 | 17:19,681,022 | G/C | — | uncertain significance |
| rs2086896010 | 17:19,683,813 | T/C | — | uncertain significance |
| rs2544645305 | 17:19,683,841 | C/A | — | uncertain significance |
| rs776840212 | 17:19,683,861 | G/A | — | uncertain significance |
| rs146758486 | 17:19,684,338 | T/C | — | uncertain significance |
| rs1171995950 | 17:19,684,347 | C/T | — | uncertain significance |
| rs1242621620 | 17:19,684,374 | G/T | — | uncertain significance |
| rs62636615 | 17:19,684,415 | C/T | — | benign |
| rs747267649 | 17:19,685,206 | A/C | — | uncertain significance |
| rs2086929565 | 17:19,685,329 | C/T | — | uncertain significance |
| rs377670804 | 17:19,687,054 | T/C | — | uncertain significance |
| rs572303038 | 17:19,687,071 | G/A | — | uncertain significance |
| rs56296267 | 17:19,687,085 | G/A | — | benign |
| rs56181782 | 17:19,687,130 | G/A | — | likely benign |
| rs766613608 | 17:19,687,155 | G/A | — | uncertain significance |
| rs745490553 | 17:19,687,171 | C/T | — | uncertain significance |
| rs536895428 | 17:19,689,346 | T/A | — | uncertain significance |
| rs2544656384 | 17:19,689,382 | C/T | — | uncertain significance |
| rs773785272 | 17:19,698,949 | C/T | — | uncertain significance |
| rs775097019 | 17:19,698,955 | G/C | — | uncertain significance |
| rs1443611505 | 17:19,699,008 | T/C | — | likely benign |
| rs758662477 | 17:19,699,436 | C/T | — | uncertain significance |
| rs780288995 | 17:19,699,441 | C/T | — | uncertain significance |
| rs2087265757 | 17:19,699,468 | A/C | — | uncertain significance |
| rs374681892 | 17:19,699,507 | G/A | — | uncertain significance |
| rs778534903 | 17:19,699,551 | G/T | — | uncertain significance |
| rs1060499754 | 17:19,700,785 | T/C | missense variant | pathogenic |
| rs145056970 | 17:19,700,818 | C/T | — | uncertain significance |
| rs1030650781 | 17:19,700,839 | C/T | — | uncertain significance |
| rs62636609 | 17:19,700,850 | C/T | — | benign |
| rs148364064 | 17:19,700,901 | C/T | — | benign |
| rs540910964 | 17:19,700,953 | G/A | — | likely benign |
| rs1214309761 | 17:19,705,107 | T/A | — | uncertain significance |
| rs763929477 | 17:19,705,137 | C/T | — | uncertain significance |
| rs772476901 | 17:19,705,185 | G/A | — | likely benign |
| rs201765692 | 17:19,705,186 | G/A | — | uncertain significance |
| rs893238454 | 17:19,708,025 | T/C | — | uncertain significance |
| rs766615063 | 17:19,708,036 | C/G | — | uncertain significance |
| rs778245665 | 17:19,708,057 | T/C | — | uncertain significance |
| rs755603472 | 17:19,708,066 | C/A | — | uncertain significance |
| rs759545378 | 17:19,708,126 | A/G | — | uncertain significance |
| rs1234586794 | 17:19,708,136 | G/C | — | uncertain significance |
| rs2041002225 | 17:19,720,166 | T/C | — | uncertain significance |
| rs150765872 | 17:19,720,168 | G/C | — | uncertain significance |
| rs139594236 | 17:19,720,188 | G/C | — | uncertain significance |
| rs145146169 | 17:19,720,227 | G/A | — | uncertain significance |
| rs149796612 | 17:19,723,649 | C/T | intron variant | — |
| rs747326810 | 17:19,728,423 | C/T | — | uncertain significance |
| rs760068253 | 17:19,728,441 | C/T | — | uncertain significance |
| rs145885221 | 17:19,729,496 | G/A | — | uncertain significance |
| rs2041754409 | 17:19,744,807 | C/T | — | uncertain significance |
| rs193921089 | 17:19,748,646 | C/A | — | uncertain significance |
| rs565406152 | 17:19,750,088 | C/T | — | uncertain significance |
| rs763647355 | 17:19,750,199 | G/A | — | uncertain significance |
| rs756982575 | 17:19,750,223 | G/A | — | likely benign |
| rs138845606 | 17:19,769,053 | A/G | — | uncertain significance |
| rs2544169743 | 17:19,769,080 | A/G | — | uncertain significance |
| rs764219457 | 17:19,769,108 | T/G | — | uncertain significance |
| rs112009436 | 17:19,770,716 | A/G | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.