PRDM1
PR/SET domain 1
Summary
This gene encodes a protein that acts as a repressor of beta-interferon gene expression. The protein binds specifically to the PRDI (positive regulatory domain I element) of the beta-IFN gene promoter. Transcription of this gene increases upon virus induction. Two alternatively spliced transcript variants that encode different isoforms have been reported. [provided by RefSeq, Jul 2008]
Known Variants58 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs72941618 | 6:106,455,881 | A/T | intergenic variant | — |
| rs74526772 | 6:106,515,218 | T/A | regulatory region variant | — |
| rs6911490 | 6:106,522,027 | T/C | intergenic variant | — |
| rs965666590 | 6:106,534,456 | G/A | — | uncertain significance |
| rs751305148 | 6:106,536,080 | C/T | — | uncertain significance |
| rs754858224 | 6:106,536,086 | A/G | — | uncertain significance |
| rs2482192365 | 6:106,536,106 | A/G | — | uncertain significance |
| rs371233477 | 6:106,536,108 | G/C | — | uncertain significance |
| rs2185379 | 6:106,536,253 | A/G | — | not provided |
| rs147363823 | 6:106,536,263 | T/C | — | uncertain significance |
| rs202200155 | 6:106,536,272 | A/T | — | likely benign |
| rs2482195051 | 6:106,536,283 | C/G | — | uncertain significance |
| rs146938087 | 6:106,543,585 | C/T | — | benign |
| rs587778623 | 6:106,547,265 | C/G | — | not provided |
| rs572233387 | 6:106,547,368 | G/A | — | uncertain significance |
| rs811925 | 6:106,547,372 | C/G | — | benign |
| rs376259357 | 6:106,547,415 | A/G | — | uncertain significance |
| rs745678262 | 6:106,552,709 | A/G | — | uncertain significance |
| rs946310283 | 6:106,552,775 | A/G | — | uncertain significance |
| rs1774404905 | 6:106,552,819 | A/G | — | uncertain significance |
| rs149024185 | 6:106,552,846 | A/G | — | benign |
| rs1003783236 | 6:106,552,876 | G/A | — | uncertain significance |
| rs17066588 | 6:106,552,892 | G/C | — | benign |
| rs770391600 | 6:106,552,966 | A/C | — | uncertain significance |
| rs148271382 | 6:106,553,045 | C/A | — | uncertain significance |
| rs143040512 | 6:106,553,096 | A/G | — | not provided |
| rs372820369 | 6:106,553,135 | C/T | — | not provided |
| rs368185616 | 6:106,553,171 | C/A | — | uncertain significance |
| rs78927371 | 6:106,553,176 | T/C | — | not provided |
| rs531488985 | 6:106,553,182 | A/G | — | not provided |
| rs548489075 | 6:106,553,183 | C/T | — | not provided |
| rs2114654043 | 6:106,553,191 | T/A | — | uncertain significance |
| rs1562174012 | 6:106,553,227 | C/G | — | uncertain significance |
| rs1445424097 | 6:106,553,230 | C/T | — | uncertain significance |
| rs1381680880 | 6:106,553,242 | A/G | — | likely benign |
| rs144524449 | 6:106,553,257 | G/C | — | not provided |
| rs587778625 | 6:106,553,341 | A/G | — | not provided |
| rs769726184 | 6:106,553,362 | C/G | — | uncertain significance |
| rs1198902497 | 6:106,553,381 | A/G | — | uncertain significance |
| rs141465160 | 6:106,553,383 | C/T | — | likely benign |
| rs151271817 | 6:106,553,393 | G/A | — | uncertain significance |
| rs780897887 | 6:106,553,423 | C/T | — | uncertain significance |
| rs773182204 | 6:106,553,431 | C/T | — | uncertain significance |
| rs77256382 | 6:106,553,435 | C/T | — | not provided |
| rs996730211 | 6:106,553,495 | T/C | — | uncertain significance |
| rs2482297241 | 6:106,553,509 | C/T | — | uncertain significance |
| rs138916112 | 6:106,553,592 | G/A | — | likely benign |
| rs1435567575 | 6:106,553,644 | G/A | — | uncertain significance |
| rs2114658024 | 6:106,553,665 | G/A | — | uncertain significance |
| rs1582481195 | 6:106,554,353 | A/G | — | likely benign |
| rs2114661844 | 6:106,554,844 | C/T | — | uncertain significance |
| rs367573477 | 6:106,555,024 | C/T | — | uncertain significance |
| rs148214527 | 6:106,555,069 | A/T | — | uncertain significance |
| rs139718143 | 6:106,555,116 | G/A | — | not provided |
| rs747743863 | 6:106,555,167 | G/A | — | likely benign |
| rs80257572 | 6:106,555,195 | G/A | — | not provided |
| rs1296446700 | 6:106,555,297 | G/A | — | uncertain significance |
| rs75859409 | 6:106,555,347 | C/A | — | conflicting classifications of pathogenicity |
Gene information from NCBI Gene. Variant classifications from ClinVar.