MDFIC
MyoD family inhibitor domain containing
Summary
This gene product is a member of a family of proteins characterized by a specific cysteine-rich C-terminal domain, which is involved in transcriptional regulation of viral genome expression. Alternative translation initiation from an upstream non-AUG (GUG), and an in-frame, downstream AUG codon, results in the production of two isoforms, p40 and p32, respectively, which have different subcellular localization; p32 is mainly found in the cytoplasm, whereas p40 is targeted to the nucleolus. Both isoforms have transcriptional regulatory activity that is attributable to the cysteine-rich C-terminal domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
Known Variants38 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs906661709 | 7:114,562,482 | T/A | — | uncertain significance |
| rs1002373465 | 7:114,562,490 | G/A | — | uncertain significance |
| rs1033831985 | 7:114,562,491 | C/A | — | uncertain significance |
| rs374606978 | 7:114,562,496 | G/A | — | uncertain significance |
| rs768189762 | 7:114,562,530 | T/A | — | uncertain significance |
| rs945405932 | 7:114,562,574 | G/A | — | uncertain significance |
| rs200906791 | 7:114,562,575 | T/A | — | uncertain significance |
| rs764512112 | 7:114,562,625 | T/C | — | uncertain significance |
| rs747836268 | 7:114,562,683 | G/T | — | uncertain significance |
| rs1047880162 | 7:114,563,089 | A/C | — | uncertain significance |
| rs2485925715 | 7:114,563,090 | T/A | — | uncertain significance |
| rs1263865542 | 7:114,563,125 | G/T | — | uncertain significance |
| rs1199925291 | 7:114,582,360 | A/G | — | uncertain significance |
| rs768625558 | 7:114,582,364 | A/G | — | uncertain significance |
| rs148824599 | 7:114,582,402 | T/A | — | uncertain significance |
| rs145872153 | 7:114,582,414 | C/T | — | likely benign |
| rs753720421 | 7:114,582,422 | G/T | — | pathogenic |
| rs778783447 | 7:114,582,425 | A/G | — | uncertain significance |
| rs138487145 | 7:114,582,433 | G/A | — | likely benign |
| rs1792561597 | 7:114,582,446 | A/T | — | uncertain significance |
| rs181575279 | 7:114,583,572 | G/T | — | — |
| rs750658797 | 7:114,619,624 | G/A | — | uncertain significance |
| rs2535238499 | 7:114,619,647 | G/T | — | uncertain significance |
| rs2535238523 | 7:114,619,660 | G/A | — | uncertain significance |
| rs150854365 | 7:114,619,689 | G/A | — | likely benign |
| rs149568758 | 7:114,619,695 | G/A | — | likely benign |
| rs374659274 | 7:114,619,705 | G/A | — | uncertain significance |
| rs147422692 | 7:114,619,719 | C/T | — | uncertain significance |
| rs748686843 | 7:114,619,726 | C/T | — | uncertain significance |
| rs754078271 | 7:114,619,809 | T/C | — | uncertain significance |
| rs2535238943 | 7:114,619,811 | C/G | — | likely benign |
| rs77236693 | 7:114,620,506 | C/T | intron variant | — |
| rs7784447 | 7:114,629,285 | G/A | regulatory region variant | — |
| rs62470670 | 7:114,651,694 | A/G | intron variant | — |
| rs751958772 | 7:114,655,801 | A/G | — | uncertain significance |
| rs769748201 | 7:114,655,849 | T/C | — | uncertain significance |
| rs377471907 | 7:114,655,867 | G/A | — | uncertain significance |
| rs77149653 | 7:114,655,980 | T/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.