| Gene ID | 10 |
| Symbol | NAT2 |
| Synonymous | AAC2|NAT-2|PNAT |
| Full name | N-acetyltransferase 2 (arylamine N-acetyltransferase) |
| Gene description | N-acetyltransferase type 2|arylamide acetylase 2|arylamine N-acetyltransferase 2 |
| Cytoband | 8p22 |
| Gene type | protein-coding |
| Synonymous | MIM:612182; HGNC:HGNC:7646; Ensembl:ENSG00000156006; HPRD:02000; Vega:OTTHUMG00000130826 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.493A>T; p.R165W; 8:18400496-18400496 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.317T>C; p.V106A; 8:18400320-18400320 |
skin | malignant_melanoma | Substitution - Missense |
c.427C>T; p.Q143*; 8:18400430-18400430 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.854A>G; p.D285G; 8:18400857-18400857 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.63G>A; p.L21L; 8:18400066-18400066 |
skin | malignant_melanoma | Substitution - coding silent |
c.199T>C; p.W67R; 8:18400202-18400202 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.457A>T; p.T153S; 8:18400460-18400460 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.633G>A; p.T211T; 8:18400636-18400636 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.386C>T; p.S129F; 8:18400389-18400389 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.87G>T; p.E29D; 8:18400090-18400090 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.792A>G; p.E264E; 8:18400795-18400795 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.197G>A; p.G66E; 8:18400200-18400200 |
skin | malignant_melanoma | Substitution - Missense |
c.491T>C; p.I164T; 8:18400494-18400494 |
skin; extremity | malignant_melanoma | Substitution - Missense |
c.287C>T; p.P96L; 8:18400290-18400290 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.730T>C; p.F244L; 8:18400733-18400733 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.843C>T; p.P281P; 8:18400846-18400846 |
skin | malignant_melanoma | Substitution - coding silent |
c.760G>T; p.E254*; 8:18400763-18400763 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.790G>A; p.E264K; 8:18400793-18400793 |
skin | malignant_melanoma | Substitution - Missense |
c.647C>T; p.S216L; 8:18400650-18400650 |
skin | malignant_melanoma | Substitution - Missense |
c.269G>A; p.G90E; 8:18400272-18400272 |
skin | malignant_melanoma | Substitution - Missense |
c.376G>A; p.G126R; 8:18400379-18400379 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.20T>A; p.F7Y; 8:18400023-18400023 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.200G>A; p.W67*; 8:18400203-18400203 |
lung | carcinoma; small_cell_carcinoma | Substitution - Nonsense |
c.540C>A; p.L180L; 8:18400543-18400543 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.345C>T; p.D115D; 8:18400348-18400348 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.345C>T; p.D115D; 8:18400348-18400348 |
prostate | carcinoma | Substitution - coding silent |
c.345C>T; p.D115D; 8:18400348-18400348 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.406G>T; p.E136*; 8:18400409-18400409 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.481C>T; p.L161L; 8:18400484-18400484 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.481C>T; p.L161L; 8:18400484-18400484 |
thyroid | other; neoplasm | Substitution - coding silent |
c.673T>C; p.L225L; 8:18400676-18400676 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.673T>C; p.L225L; 8:18400676-18400676 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.578C>T; p.T193M; 8:18400581-18400581 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.590G>A; p.R197Q; 8:18400593-18400593 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.342T>C; p.I114I; 8:18400345-18400345 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4G>A; p.D2N; 8:18400007-18400007 |
skin | malignant_melanoma | Substitution - Missense |
c.632C>T; p.T211M; 8:18400635-18400635 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.725G>T; p.R242I; 8:18400728-18400728 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.725G>T; p.R242I; 8:18400728-18400728 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.465G>A; p.E155E; 8:18400468-18400468 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.159G>T; p.E53D; 8:18400162-18400162 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.159G>T; p.E53D; 8:18400162-18400162 |
stomach | adenocarcinoma | Substitution - Missense |
c.834T>C; p.N278N; 8:18400837-18400837 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.39G>A; p.K13K; 8:18400042-18400042 |
skin | malignant_melanoma | Substitution - coding silent |
c.26G>T; p.R9I; 8:18400029-18400029 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.26G>T; p.R9I; 8:18400029-18400029 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.494G>A; p.R165K; 8:18400497-18400497 |
skin | malignant_melanoma | Substitution - Missense |
c.838G>A; p.V280M; 8:18400841-18400841 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.627G>T; p.L209L; 8:18400630-18400630 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.598G>A; p.E200K; 8:18400601-18400601 |
skin | malignant_melanoma | Substitution - Missense |
c.306C>T; p.S102S; 8:18400309-18400309 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.26G>A; p.R9K; 8:18400029-18400029 |
skin | malignant_melanoma | Substitution - Missense |
c.282C>T; p.Y94Y; 8:18400285-18400285 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.523T>A; p.F175I; 8:18400526-18400526 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.351G>A; p.R117R; 8:18400354-18400354 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.351G>A; p.R117R; 8:18400354-18400354 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - coding silent |
c.551A>C; p.K184T; 8:18400554-18400554 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.98G>A; p.R33Q; 8:18400101-18400101 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.246C>T; p.I82I; 8:18400249-18400249 |
skin | malignant_melanoma | Substitution - coding silent |
c.399G>C; p.Q133H; 8:18400402-18400402 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.821C>T; p.S274F; 8:18400824-18400824 |
skin | malignant_melanoma | Substitution - Missense |
c.821C>T; p.S274F; 8:18400824-18400824 |
skin | malignant_melanoma | Substitution - Missense |
c.821C>T; p.S274F; 8:18400824-18400824 |
skin | malignant_melanoma | Substitution - Missense |
c.160G>A; p.A54T; 8:18400163-18400163 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.160G>A; p.A54T; 8:18400163-18400163 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.775A>G; p.T259A; 8:18400778-18400778 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.194G>A; p.G65D; 8:18400197-18400197 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma | Substitution - Missense |
c.48G>A; p.R16R; 8:18400051-18400051 |
skin | malignant_melanoma | Substitution - coding silent |
c.48G>A; p.R16R; 8:18400051-18400051 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.837C>T; p.L279L; 8:18400840-18400840 |
skin | malignant_melanoma | Substitution - coding silent |
c.400C>T; p.P134S; 8:18400403-18400403 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.760G>A; p.E254K; 8:18400763-18400763 |
skin | malignant_melanoma | Substitution - Missense |
c.208C>T; p.Q70*; 8:18400211-18400211 |
skin | malignant_melanoma | Substitution - Nonsense |
c.208C>T; p.Q70*; 8:18400211-18400211 |
skin | malignant_melanoma | Substitution - Nonsense |
c.674T>C; p.L225S; 8:18400677-18400677 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.732C>G; p.F244L; 8:18400735-18400735 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.732C>G; p.F244L; 8:18400735-18400735 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.270A>T; p.G90G; 8:18400273-18400273 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.816G>T; p.K272N; 8:18400819-18400819 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |