TAF8
TATA-box binding protein associated factor 8
Summary
This gene encodes one of several TATA-binding protein (TBP)-associated factors (TAFs), which are integral subunits of the general transcription factor complex TFIID. TFIID recognizes the core promoter of many genes and nucleates the assembly of a transcription preinitiation complex containing RNA polymerase II and other initiation factors. The protein encoded by this gene contains an H4-like histone fold domain, and interacts with several subunits of TFIID including TBP and the histone-fold protein TAF10. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
Known Variants30 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs573020143 | 6:42,018,290 | C/T | — | uncertain significance |
| rs868161378 | 6:42,018,317 | C/A | — | uncertain significance |
| rs2127446222 | 6:42,018,328 | A/G | — | pathogenic |
| rs756688392 | 6:42,018,329 | G/A | — | uncertain significance |
| rs373530647 | 6:42,019,112 | G/C | — | uncertain significance |
| rs767483326 | 6:42,019,147 | G/A | — | uncertain significance |
| rs1582208473 | 6:42,019,220 | C/T | — | likely benign |
| rs771952250 | 6:42,019,225 | A/C | — | uncertain significance |
| rs370822634 | 6:42,019,227 | A/G | — | uncertain significance |
| rs112695700 | 6:42,022,563 | T/C | upstream gene variant | — |
| rs2532622818 | 6:42,023,704 | A/G | — | uncertain significance |
| rs74526869 | 6:42,024,634 | G/A | intron variant | — |
| rs1384148842 | 6:42,025,126 | G/T | — | likely pathogenic |
| rs1242701273 | 6:42,025,195 | C/G | — | uncertain significance |
| rs2532628237 | 6:42,025,197 | C/G | — | uncertain significance |
| rs554917914 | 6:42,025,251 | G/A | — | pathogenic |
| rs9369329 | 6:42,029,905 | C/T | intron variant | — |
| rs1185898798 | 6:42,034,116 | G/A | — | uncertain significance |
| rs371516491 | 6:42,034,122 | C/T | — | uncertain significance |
| rs1374321126 | 6:42,034,123 | G/A | — | uncertain significance |
| rs770137667 | 6:42,034,134 | C/T | — | uncertain significance |
| rs1367999240 | 6:42,036,205 | A/G | — | uncertain significance |
| rs2532664948 | 6:42,036,222 | C/G | — | uncertain significance |
| rs113867213 | 6:42,038,078 | A/C | intron variant | — |
| rs371261267 | 6:42,044,837 | G/A | — | pathogenic |
| rs2532691001 | 6:42,044,866 | C/A | — | uncertain significance |
| rs1243138301 | 6:42,044,911 | G/T | — | uncertain significance |
| rs112428683 | 6:42,047,471 | T/A | — | likely benign |
| rs2492937 | 6:42,054,346 | G/A | regulatory region variant | — |
| rs184787862 | 6:42,055,633 | G/A | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.