NMRAL1
NmrA like redox sensor 1
Summary
This gene encodes an NADPH sensor protein that preferentially binds to NADPH. The encoded protein also negatively regulates the activity of NF-kappaB in a ubiquitylation-dependent manner. It plays a key role in cellular antiviral response by negatively regulating the interferon response factor 3-mediated expression of interferon beta. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]
Known Variants30 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs763676996 | 16:4,511,791 | T/G | — | uncertain significance |
| rs750372088 | 16:4,511,801 | C/T | — | uncertain significance |
| rs770043309 | 16:4,511,823 | G/C | — | uncertain significance |
| rs141298817 | 16:4,511,862 | C/G | — | uncertain significance |
| rs772470093 | 16:4,511,896 | C/T | — | uncertain significance |
| rs768408070 | 16:4,513,669 | C/T | — | uncertain significance |
| rs766531824 | 16:4,513,734 | G/A | — | uncertain significance |
| rs779642852 | 16:4,513,759 | C/T | — | likely benign |
| rs368484670 | 16:4,513,809 | G/C | — | uncertain significance |
| rs2505644171 | 16:4,513,827 | A/G | — | uncertain significance |
| rs150141402 | 16:4,516,173 | G/T | — | uncertain significance |
| rs370842993 | 16:4,516,255 | A/G | — | uncertain significance |
| rs773811844 | 16:4,516,261 | C/T | — | uncertain significance |
| rs375433527 | 16:4,516,262 | G/A | — | uncertain significance |
| rs1201782229 | 16:4,516,289 | C/T | — | uncertain significance |
| rs148220267 | 16:4,516,301 | C/T | — | uncertain significance |
| rs779258307 | 16:4,516,321 | G/A | — | uncertain significance |
| rs2505672418 | 16:4,516,354 | A/G | — | uncertain significance |
| rs2505672748 | 16:4,516,366 | A/T | — | uncertain significance |
| rs576274987 | 16:4,516,375 | C/T | — | likely benign |
| rs538518387 | 16:4,516,391 | C/T | — | uncertain significance |
| rs3747585 | 16:4,519,140 | C/T | — | — |
| rs146163636 | 16:4,519,268 | T/C | — | uncertain significance |
| rs1350295523 | 16:4,519,283 | G/A | — | uncertain significance |
| rs370838589 | 16:4,519,379 | G/A | — | uncertain significance |
| rs148847461 | 16:4,519,382 | T/G | — | uncertain significance |
| rs143521179 | 16:4,519,397 | C/T | — | uncertain significance |
| rs373098518 | 16:4,519,415 | T/G | — | uncertain significance |
| rs141993533 | 16:4,519,443 | G/A | — | uncertain significance |
| rs77934295 | 16:4,519,449 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.