NAT2
N-acetyltransferase 2
Pharmacogene
Summary
This gene encodes an enzyme that functions to both activate and deactivate arylamine and hydrazine drugs and carcinogens. Polymorphisms in this gene are responsible for the N-acetylation polymorphism in which human populations segregate into rapid, intermediate, and slow acetylator phenotypes. Polymorphisms in this gene are also associated with higher incidences of cancer and drug toxicity. A second polymorphic arylamine N-acetyltransferase gene (NAT1), is located near this gene (NAT2). [provided by RefSeq, Sep 2019]
Known Variants37 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1565684 | 8:18,246,664 | A/C | — | — |
| rs4345600 | 8:18,248,208 | A/G | upstream gene variant | — |
| rs4271002 | 8:18,248,268 | G/T | — | — |
| rs55686478 | 8:18,250,375 | G/A | intron variant | — |
| rs9987109 | 8:18,250,922 | T/A | — | — |
| rs1801279 | 8:18,257,477 | G/A | missense | drug response |
| rs1041983 | 8:18,257,568 | C/T | synonymous | benign |
| rs532310930 | 8:18,257,571 | G/T | — | uncertain significance |
| rs1799929 | 8:18,257,611 | C/T | synonymous | benign |
| rs773371959 | 8:18,257,689 | T/A | — | uncertain significance |
| rs1019316375 | 8:18,257,707 | G/T | — | uncertain significance |
| rs1422696182 | 8:18,257,754 | A/G | — | uncertain significance |
| rs751374116 | 8:18,257,759 | C/T | — | likely benign |
| rs746734312 | 8:18,257,760 | G/T | — | uncertain significance |
| rs771145519 | 8:18,257,770 | C/A | — | uncertain significance |
| rs1801280 | 8:18,257,854 | T/C | missense | drug response |
| rs183409091 | 8:18,257,859 | G/A | — | uncertain significance |
| rs4986996 | 8:18,257,877 | G/A | missense variant | — |
| rs144828000 | 8:18,257,900 | C/T | — | likely benign |
| rs2535896354 | 8:18,257,919 | G/C | — | uncertain significance |
| rs4986997 | 8:18,257,924 | A/C | missense variant | — |
| rs1162331328 | 8:18,257,980 | G/T | — | uncertain significance |
| rs1315180839 | 8:18,258,017 | G/A | — | likely benign |
| rs1341104335 | 8:18,258,018 | T/C | — | uncertain significance |
| rs1232810154 | 8:18,258,060 | A/G | — | uncertain significance |
| rs144176822 | 8:18,258,092 | G/T | — | likely benign |
| rs1799930 | 8:18,258,103 | G/A | missense | drug response |
| rs45618543 | 8:18,258,122 | G/T | — | benign |
| rs1414496827 | 8:18,258,211 | G/C | — | uncertain significance |
| rs778253810 | 8:18,258,219 | G/C | — | uncertain significance |
| rs996188894 | 8:18,258,262 | C/A | — | uncertain significance |
| rs1208 | 8:18,258,309 | A/G | missense | drug response |
| rs1755602331 | 8:18,258,326 | T/G | — | uncertain significance |
| rs148566670 | 8:18,258,336 | T/A | — | uncertain significance |
| rs2535897298 | 8:18,258,348 | C/A | — | uncertain significance |
| rs56393504 | 8:18,258,351 | G/A | — | benign |
| rs1799931 | 8:18,258,370 | G/A | missense variant | drug response |
Gene information from NCBI Gene. Variant classifications from ClinVar.