NAT1
N-acetyltransferase 1
Pharmacogene
Summary
This gene is one of two arylamine N-acetyltransferase (NAT) genes in the human genome, and is orthologous to the mouse and rat Nat2 genes. The enzyme encoded by this gene catalyzes the transfer of an acetyl group from acetyl-CoA to various arylamine and hydrazine substrates. This enzyme helps metabolize drugs and other xenobiotics, and functions in folate catabolism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
Known Variants39 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs28359483 | 8:18,067,697 | G/C | — | — |
| rs6586714 | 8:18,073,942 | A/T | — | — |
| rs4986988 | 8:18,079,213 | C/A | 5 prime UTR variant | — |
| rs1241106979 | 8:18,079,673 | C/G | — | uncertain significance |
| rs56379106 | 8:18,079,746 | C/T | missense variant | benign |
| rs370859724 | 8:18,079,871 | G/T | — | likely benign |
| rs200857632 | 8:18,079,936 | G/A | — | uncertain significance |
| rs548004925 | 8:18,079,942 | A/T | — | uncertain significance |
| rs4987076 | 8:18,080,001 | G/A | missense variant | benign |
| rs139028182 | 8:18,080,060 | G/T | — | uncertain significance |
| rs2486580257 | 8:18,080,061 | T/A | — | uncertain significance |
| rs1009215309 | 8:18,080,091 | G/A | — | uncertain significance |
| rs4986782 | 8:18,080,116 | G/A | missense variant | — |
| rs778732687 | 8:18,080,145 | C/G | — | uncertain significance |
| rs1162315885 | 8:18,080,364 | A/G | — | uncertain significance |
| rs771571411 | 8:18,080,366 | A/G | — | uncertain significance |
| rs1057126 | 8:18,080,644 | A/T | 3 prime UTR variant | — |
| rs15561 | 8:18,080,651 | A/T | 3 prime UTR variant | — |
| rs4986992 | 8:18,222,068 | T/G | synonymous variant | — |
| rs56318881 | 8:18,222,144 | C/T | stop gained | — |
| rs72554606 | 8:18,222,397 | GG/CC | missense variant | — |
| rs146727732 | 8:18,222,449 | T/C | synonymous variant | — |
| rs4986990 | 8:18,222,506 | G/A | synonymous variant | — |
| rs72554608 | 8:18,222,544 | GGG/CCC | frameshift variant | — |
| rs5030839 | 8:18,222,606 | C/T | stop gained | — |
| rs72554609 | 8:18,222,660 | A/G | missense variant | — |
| rs56172717 | 8:18,222,799 | A/T | missense variant | — |
| rs4986991 | 8:18,222,824 | T/C | synonymous variant | — |
| rs72554610 | 8:18,222,828 | G/A | missense variant | — |
| rs72554611 | 8:18,222,834 | A/G | missense variant | — |
| rs55793712 | 8:18,222,931 | A/G | 3 prime UTR variant | — |
| rs72554612 | 8:18,223,022 | AA/A | 3 prime UTR variant | — |
| rs8190859 | 8:18,223,072 | TT/T | 3 prime UTR variant | — |
| rs4646271 | 8:18,223,110 | CAAA/C | 3 prime UTR variant | — |
| rs567144265 | 8:18,223,111 | A/AAAT | 3 prime UTR variant | — |
| rs567144265 | 8:18,223,111 | A/AAAT | 3 prime UTR variant | — |
| rs367921464 | 8:18,223,126 | TAATAATAAA/T | 3 prime UTR variant | — |
| rs932721238 | 8:18,223,129 | TAATAAA/T | 3 prime UTR variant | — |
| rs72554613 | 8:18,223,151 | AT/A | 3 prime UTR variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.