| Gene ID | 9 |
| Symbol | NAT1 |
| Synonymous | AAC1|MNAT|NAT-1|NATI |
| Full name | N-acetyltransferase 1 (arylamine N-acetyltransferase) |
| Gene description | N-acetyltransferase type 1|arylamide acetylase 1|arylamine N-acetyltransferase 1|monomorphic arylamine N-acetyltransferase |
| Cytoband | 8p22 |
| Gene type | protein-coding |
| Synonymous | MIM:108345; HGNC:HGNC:7645; Ensembl:ENSG00000171428; HPRD:00149; Vega:OTTHUMG00000097001 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.771T>C; p.T257T; 8:18222818-18222818 |
NS | NS | Substitution - coding silent |
c.680C>T; p.T227I; 8:18222727-18222727 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.353A>G; p.N118S; 8:18222400-18222400 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.336G>T; p.V112V; 8:18222383-18222383 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.864T>C; p.F288F; 8:18222911-18222911 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.259A>T; p.T87S; 8:18222306-18222306 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.784G>T; p.E262*; 8:18222831-18222831 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.419G>A; p.G140E; 8:18222466-18222466 |
skin; neck | malignant_melanoma | Substitution - Missense |
c.503A>C; p.Q168P; 8:18222550-18222550 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.456G>T; p.L152F; 8:18222503-18222503 |
breast | carcinoma | Substitution - Missense |
c.818T>G; p.I273S; 8:18222865-18222865 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.347G>A; p.G116D; 8:18222394-18222394 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.469G>A; p.G157R; 8:18222516-18222516 |
breast | carcinoma | Substitution - Missense |
c.465G>T; p.E155D; 8:18222512-18222512 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.465G>T; p.E155D; 8:18222512-18222512 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.169G>T; p.D57Y; 8:18222216-18222216 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.240C>T; p.T80T; 8:18222287-18222287 |
skin | malignant_melanoma | Substitution - coding silent |
c.425A>G; p.D142G; 8:18222472-18222472 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.425A>G; p.D142G; 8:18222472-18222472 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.197G>A; p.G66E; 8:18222244-18222244 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.208C>T; p.Q70*; 8:18222255-18222255 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.26G>T; p.R9I; 8:18222073-18222073 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.26G>T; p.R9I; 8:18222073-18222073 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.662C>T; p.S221L; 8:18222709-18222709 |
skin | malignant_melanoma | Substitution - Missense |
c.486C>G; p.D162E; 8:18222533-18222533 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.191G>A; p.R64Q; 8:18222238-18222238 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.67A>G; p.T23A; 8:18222114-18222114 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.628C>G; p.Q210E; 8:18222675-18222675 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.788T>G; p.I263R; 8:18222835-18222835 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.305G>A; p.S102N; 8:18222352-18222352 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.445G>A; p.V149I; 8:18222492-18222492 |
skin | malignant_melanoma | Substitution - Missense |
c.536A>C; p.D179A; 8:18222583-18222583 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.716T>G; p.L239R; 8:18222763-18222763 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |