MAFA
MAF bZIP transcription factor A
Summary
MAFA is a transcription factor that binds RIPE3b, a conserved enhancer element that regulates pancreatic beta cell-specific expression of the insulin gene (INS; MIM 176730) (Olbrot et al., 2002 [PubMed 12011435]).[supplied by OMIM, Mar 2008]
Known Variants40 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs561690810 | 8:144,510,636 | A/T | — | — |
| rs752414651 | 8:144,511,513 | G/A | — | likely benign |
| rs562440203 | 8:144,511,524 | G/T | — | uncertain significance |
| rs62521874 | 8:144,511,538 | A/C | — | benign |
| rs770823921 | 8:144,511,580 | G/A | — | uncertain significance |
| rs762656136 | 8:144,511,606 | C/A | — | uncertain significance |
| rs781101982 | 8:144,511,736 | T/C | — | uncertain significance |
| rs375787953 | 8:144,511,753 | C/T | — | uncertain significance |
| rs78739463 | 8:144,511,755 | C/T | — | benign |
| rs761090493 | 8:144,511,781 | C/A | — | benign |
| rs2537670899 | 8:144,511,801 | C/G | — | uncertain significance |
| rs763299274 | 8:144,511,810 | T/G | — | uncertain significance |
| rs753781845 | 8:144,511,830 | C/G | — | uncertain significance |
| rs374635558 | 8:144,511,869 | C/T | — | benign |
| rs1027910734 | 8:144,511,880 | C/A | — | uncertain significance |
| rs762915364 | 8:144,511,924 | C/T | — | uncertain significance |
| rs538034673 | 8:144,511,946 | C/T | — | uncertain significance |
| rs1872900 | 8:144,511,995 | A/G | — | benign |
| rs756955386 | 8:144,512,056 | C/T | — | uncertain significance |
| rs2129756332 | 8:144,512,071 | G/T | — | likely benign |
| rs781731297 | 8:144,512,104 | G/T | — | uncertain significance |
| rs149797559 | 8:144,512,126 | G/A | — | benign |
| rs767723387 | 8:144,512,179 | A/C | — | uncertain significance |
| rs75183115 | 8:144,512,184 | G/A | — | benign |
| rs2537671911 | 8:144,512,258 | T/C | — | likely benign |
| rs987195165 | 8:144,512,276 | G/T | — | uncertain significance |
| rs540650393 | 8:144,512,284 | C/T | — | uncertain significance |
| rs2537671965 | 8:144,512,285 | T/G | — | uncertain significance |
| rs2537671995 | 8:144,512,288 | G/C | — | uncertain significance |
| rs937552311 | 8:144,512,302 | C/G | — | uncertain significance |
| rs1819518441 | 8:144,512,315 | A/C | — | likely benign |
| rs2537672029 | 8:144,512,318 | A/C | — | likely benign |
| rs2537672155 | 8:144,512,372 | A/G | — | uncertain significance |
| rs1554635488 | 8:144,512,386 | G/A | — | likely pathogenic |
| rs1819520149 | 8:144,512,407 | G/C | — | pathogenic |
| rs371867015 | 8:144,512,446 | C/T | — | uncertain significance |
| rs2537672277 | 8:144,512,456 | A/C | — | uncertain significance |
| rs868758709 | 8:144,512,462 | C/T | — | uncertain significance |
| rs755736896 | 8:144,512,536 | C/T | — | uncertain significance |
| rs2129758038 | 8:144,512,564 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.