NR5A2
nuclear receptor subfamily 5 group A member 2
Summary
The protein encoded by this gene is a DNA-binding zinc finger transcription factor and is a member of the fushi tarazu factor-1 subfamily of orphan nuclear receptors. The encoded protein is involved in the expression of genes for hepatitis B virus and cholesterol biosynthesis, and may be an important regulator of embryonic development. [provided by RefSeq, Jun 2016]
Known Variants35 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3790844 | 1:200,007,432 | A/T | — | — |
| rs373989335 | 1:200,008,802 | C/T | — | likely benign |
| rs745723899 | 1:200,008,917 | A/G | — | uncertain significance |
| rs34231860 | 1:200,014,582 | G/A | — | benign |
| rs1489721916 | 1:200,017,295 | A/C | — | likely benign |
| rs759459779 | 1:200,017,302 | G/A | — | uncertain significance |
| rs1662468369 | 1:200,017,401 | A/C | — | uncertain significance |
| rs749896579 | 1:200,017,517 | T/G | — | conflicting classifications of pathogenicity |
| rs749157454 | 1:200,017,567 | C/G | — | uncertain significance |
| rs200947591 | 1:200,017,573 | G/A | — | uncertain significance |
| rs370987975 | 1:200,017,592 | C/G | — | uncertain significance |
| rs757522943 | 1:200,017,606 | G/T | — | uncertain significance |
| rs778933557 | 1:200,017,629 | C/G | — | uncertain significance |
| rs747857889 | 1:200,017,635 | C/T | — | uncertain significance |
| rs763405171 | 1:200,017,684 | C/T | — | uncertain significance |
| rs139624279 | 1:200,017,720 | C/T | — | likely benign |
| rs2465242550 | 1:200,017,741 | C/A | — | uncertain significance |
| rs61755054 | 1:200,017,834 | G/A | — | uncertain significance |
| rs777870204 | 1:200,017,842 | C/G | — | uncertain significance |
| rs774872040 | 1:200,017,888 | A/T | — | likely benign |
| rs2465243678 | 1:200,017,924 | G/A | — | uncertain significance |
| rs145972739 | 1:200,031,115 | A/G | intron variant | — |
| rs2737649 | 1:200,035,444 | G/C | intron variant | — |
| rs2821307 | 1:200,043,726 | T/G | intron variant | — |
| rs2464437760 | 1:200,080,360 | T/C | — | uncertain significance |
| rs2821332 | 1:200,085,714 | T/G | — | — |
| rs146778765 | 1:200,090,009 | T/C | — | uncertain significance |
| rs1251735242 | 1:200,090,026 | C/T | — | uncertain significance |
| rs773676381 | 1:200,090,042 | G/T | — | uncertain significance |
| rs3762397 | 1:200,090,219 | C/T | intron variant | — |
| rs2816967 | 1:200,099,007 | T/A | regulatory region variant | — |
| rs2816958 | 1:200,101,920 | A/G | intron variant | — |
| rs771306384 | 1:200,143,232 | G/A | — | uncertain significance |
| rs995931179 | 1:200,143,282 | G/A | — | uncertain significance |
| rs376108677 | 1:200,143,310 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.