DCAF8
DDB1 and CUL4 associated factor 8
Summary
This gene encodes a WD repeat-containing protein that interacts with the Cul4-Ddb1 E3 ligase macromolecular complex. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2009]
Known Variants43 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2525127692 | 1:160,187,449 | G/A | — | uncertain significance |
| rs748037344 | 1:160,187,450 | A/G | — | uncertain significance |
| rs2525127828 | 1:160,187,492 | G/A | — | uncertain significance |
| rs745507749 | 1:160,187,497 | C/T | — | uncertain significance |
| rs1278792129 | 1:160,188,242 | A/G | — | likely benign |
| rs142684645 | 1:160,192,500 | G/A | — | uncertain significance |
| rs142352428 | 1:160,194,308 | A/G | — | uncertain significance |
| rs1354275910 | 1:160,194,880 | G/A | — | likely benign |
| rs1290945285 | 1:160,194,891 | C/A | — | uncertain significance |
| rs1237486327 | 1:160,195,424 | T/C | — | uncertain significance |
| rs200843224 | 1:160,201,129 | T/C | — | uncertain significance |
| rs11591179 | 1:160,206,067 | T/A | — | — |
| rs2525183011 | 1:160,206,921 | T/G | — | uncertain significance |
| rs1327588458 | 1:160,206,925 | G/A | — | uncertain significance |
| rs587777425 | 1:160,206,935 | G/A | missense variant | pathogenic |
| rs2275702 | 1:160,208,439 | C/T | — | likely benign |
| rs753753498 | 1:160,208,452 | G/A | — | uncertain significance |
| rs16831675 | 1:160,208,472 | T/C | — | benign |
| rs150783109 | 1:160,208,484 | G/A | — | likely benign |
| rs114777785 | 1:160,209,444 | C/A | — | uncertain significance |
| rs1656029984 | 1:160,209,540 | G/A | — | uncertain significance |
| rs144158120 | 1:160,209,568 | G/A | — | likely benign |
| rs144644529 | 1:160,209,598 | G/A | — | likely benign |
| rs373676811 | 1:160,209,651 | G/T | — | uncertain significance |
| rs770987180 | 1:160,209,659 | C/T | — | uncertain significance |
| rs201747259 | 1:160,209,670 | C/A | — | likely benign |
| rs1228444617 | 1:160,209,759 | G/A | — | uncertain significance |
| rs151050731 | 1:160,209,766 | G/T | — | likely benign |
| rs2525192257 | 1:160,209,773 | G/A | — | uncertain significance |
| rs1334652694 | 1:160,209,785 | G/A | — | uncertain significance |
| rs772114617 | 1:160,209,810 | G/A | — | uncertain significance |
| rs1656040620 | 1:160,209,827 | T/A | — | uncertain significance |
| rs186360966 | 1:160,209,837 | G/A | — | likely benign |
| rs768015097 | 1:160,209,846 | G/A | — | uncertain significance |
| rs1315692521 | 1:160,209,851 | C/T | — | uncertain significance |
| rs200043571 | 1:160,209,861 | G/A | — | uncertain significance |
| rs376611740 | 1:160,209,863 | C/T | — | conflicting classifications of pathogenicity |
| rs191317846 | 1:160,209,923 | T/C | — | uncertain significance |
| rs772868623 | 1:160,209,927 | C/T | — | uncertain significance |
| rs2525196034 | 1:160,210,056 | C/T | — | uncertain significance |
| rs1057518253 | 1:160,210,058 | G/A | — | uncertain significance |
| rs1372136970 | 1:160,210,069 | A/T | — | uncertain significance |
| rs201056171 | 1:160,210,092 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.