UVRAG
UV radiation resistance associated
Summary
This gene complements the ultraviolet sensitivity of xeroderma pigmentosum group C cells and encodes a protein with a C2 domain. The protein activates the Beclin1-PI(3)KC3 complex, promoting autophagy and suppressing the proliferation and tumorigenicity of human colon cancer cells. Chromosomal aberrations involving this gene are associated with left-right axis malformation and mutations in this gene have been associated with colon cancer. [provided by RefSeq, Jul 2008]
Known Variants65 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1458836 | 11:75,524,796 | C/T | coding sequence variant | — |
| rs7118569 | 11:75,526,482 | C/A | synonymous variant | — |
| rs965232042 | 11:75,526,504 | C/T | — | uncertain significance |
| rs1323348747 | 11:75,526,555 | C/A | — | uncertain significance |
| rs10899134 | 11:75,533,805 | G/C | intron variant | — |
| rs7933235 | 11:75,540,586 | A/G | intron variant | — |
| rs72997672 | 11:75,550,909 | G/T | upstream gene variant | — |
| rs2497603907 | 11:75,562,959 | C/T | — | uncertain significance |
| rs1286155761 | 11:75,563,015 | C/T | — | uncertain significance |
| rs141406262 | 11:75,563,021 | T/C | — | uncertain significance |
| rs748549045 | 11:75,563,039 | T/C | — | uncertain significance |
| rs12223234 | 11:75,568,683 | T/C | intron variant | — |
| rs1946899573 | 11:75,590,956 | A/G | — | uncertain significance |
| rs752751532 | 11:75,590,992 | G/A | — | uncertain significance |
| rs749559634 | 11:75,591,026 | A/T | — | uncertain significance |
| rs1478697110 | 11:75,599,875 | T/G | — | uncertain significance |
| rs864622029 | 11:75,599,940 | A/G | — | uncertain significance |
| rs200377807 | 11:75,599,954 | A/C | — | likely benign |
| rs35009707 | 11:75,602,151 | C/G | intron variant | — |
| rs868707282 | 11:75,623,022 | A/G | — | uncertain significance |
| rs912730873 | 11:75,623,052 | C/T | — | uncertain significance |
| rs564183966 | 11:75,623,064 | G/A | — | uncertain significance |
| rs113183732 | 11:75,623,086 | A/G | — | benign |
| rs142663987 | 11:75,625,069 | T/A | upstream gene variant | — |
| rs2497939154 | 11:75,672,529 | C/T | — | uncertain significance |
| rs776404577 | 11:75,672,586 | A/G | — | uncertain significance |
| rs12576749 | 11:75,676,260 | G/T | — | — |
| rs369320979 | 11:75,694,431 | A/G | — | uncertain significance |
| rs770536925 | 11:75,694,446 | T/C | — | uncertain significance |
| rs2498044391 | 11:75,694,462 | T/G | — | uncertain significance |
| rs1949433091 | 11:75,694,479 | G/A | — | uncertain significance |
| rs148858611 | 11:75,694,488 | C/T | — | uncertain significance |
| rs1949433356 | 11:75,694,489 | G/A | — | uncertain significance |
| rs1457067201 | 11:75,694,548 | C/G | — | uncertain significance |
| rs145526879 | 11:75,718,602 | T/C | — | likely benign |
| rs367545338 | 11:75,718,612 | A/G | — | uncertain significance |
| rs767881776 | 11:75,718,630 | C/T | — | uncertain significance |
| rs200721834 | 11:75,719,872 | G/A | — | uncertain significance |
| rs369678959 | 11:75,727,915 | A/G | — | uncertain significance |
| rs770597450 | 11:75,727,954 | A/G | — | uncertain significance |
| rs187058315 | 11:75,728,009 | C/T | — | uncertain significance |
| rs762191593 | 11:75,827,029 | A/G | — | uncertain significance |
| rs2495644703 | 11:75,851,793 | A/C | — | uncertain significance |
| rs2495644755 | 11:75,851,810 | T/A | — | uncertain significance |
| rs77892162 | 11:75,851,814 | G/T | — | likely benign |
| rs1482450763 | 11:75,851,840 | G/A | — | uncertain significance |
| rs377746842 | 11:75,851,865 | A/G | — | uncertain significance |
| rs147445026 | 11:75,851,874 | G/A | — | uncertain significance |
| rs747397100 | 11:75,851,876 | G/A | — | uncertain significance |
| rs11825644 | 11:75,851,956 | C/T | — | benign |
| rs572118480 | 11:75,851,978 | G/A | — | uncertain significance |
| rs1477691829 | 11:75,852,046 | A/T | — | uncertain significance |
| rs2495645886 | 11:75,852,055 | G/C | — | uncertain significance |
| rs146466983 | 11:75,852,086 | G/A | — | uncertain significance |
| rs200073911 | 11:75,852,113 | G/A | — | uncertain significance |
| rs759030935 | 11:75,852,134 | C/T | — | uncertain significance |
| rs764774435 | 11:75,852,135 | G/T | — | uncertain significance |
| rs201846822 | 11:75,852,147 | A/G | — | uncertain significance |
| rs372890913 | 11:75,852,167 | G/C | — | uncertain significance |
| rs1452523961 | 11:75,852,234 | G/C | — | uncertain significance |
| rs758474546 | 11:75,852,266 | G/A | — | uncertain significance |
| rs140477390 | 11:75,852,275 | G/A | — | uncertain significance |
| rs376856411 | 11:75,852,399 | A/G | — | uncertain significance |
| rs947343022 | 11:75,852,402 | C/T | — | uncertain significance |
| rs773062358 | 11:75,852,437 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.