| Gene ID | 335 |
| Symbol | APOA1 |
| Synonymous | - |
| Full name | apolipoprotein A-I |
| Gene description | apo-AI |
| Cytoband | 11q23-q24 |
| Gene type | protein-coding |
| Synonymous | MIM:107680; HGNC:HGNC:600; Ensembl:ENSG00000118137; HPRD:02517; Vega:OTTHUMG00000046112 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.772G>C; p.E258Q; 11:116835840-116835840 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.779A>G; p.Y260C; 11:116835833-116835833 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.11C>T; p.A4V; 11:116837377-116837377 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.577G>A; p.E193K; 11:116836035-116836035 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.278A>G; p.Q93R; 11:116836334-116836334 |
skin | malignant_melanoma | Substitution - Missense |
c.687G>A; p.E229E; 11:116835925-116835925 |
breast | carcinoma | Substitution - coding silent |
c.254G>A; p.R85H; 11:116836358-116836358 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.254G>A; p.R85H; 11:116836358-116836358 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.529C>T; p.R177C; 11:116836083-116836083 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.92C>T; p.P31L; 11:116837109-116837109 |
skin; extremity | malignant_melanoma | Substitution - Missense |
c.43G>T; p.G15W; 11:116837345-116837345 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.433C>G; p.P145A; 11:116836179-116836179 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.115G>A; p.A39T; 11:116837086-116837086 |
prostate | carcinoma | Substitution - Missense |
c.211C>A; p.L71I; 11:116836401-116836401 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.44G>A; p.G15E; 11:116837157-116837157 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.280G>A; p.E94K; 11:116836332-116836332 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.699C>A; p.P233P; 11:116835913-116835913 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.41C>T; p.T14M; 11:116837347-116837347 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.41C>T; p.T14M; 11:116837347-116837347 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.41C>T; p.T14M; 11:116837347-116837347 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.146G>A; p.S49N; 11:116837055-116837055 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.85delC; p.Q29fs*7; 11:116837116-116837116 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.85delC; p.Q29fs*7; 11:116837116-116837116 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.55C>T; p.R19W; 11:116837146-116837146 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.85delC; p.Q29fs*7; 11:116837116-116837116 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.256G>A; p.E86K; 11:116836356-116836356 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.179C>T; p.S60F; 11:116837022-116837022 |
skin; extremity | malignant_melanoma | Substitution - Missense |
c.156C>T; p.D52D; 11:116837045-116837045 |
skin | malignant_melanoma | Substitution - coding silent |
c.750G>T; p.K250N; 11:116835862-116835862 |
kidney | other; neoplasm | Substitution - Missense |
c.230T>C; p.V77A; 11:116836382-116836382 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.28G>A; p.V10M; 11:116837360-116837360 |
breast | carcinoma | Substitution - Missense |
c.28G>A; p.V10M; 11:116837360-116837360 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.190A>G; p.K64E; 11:116837011-116837011 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.503T>G; p.L168R; 11:116836109-116836109 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.330G>C; p.M110I; 11:116836282-116836282 |
breast | carcinoma | Substitution - Missense |
c.85_86insC; p.Q29fs*30; 11:116837115-116837116 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.528G>A; p.A176A; 11:116836084-116836084 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.315C>A; p.G105G; 11:116836297-116836297 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.315C>A; p.G105G; 11:116836297-116836297 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - coding silent |
c.504_505GG>AA; p.G169S; 11:116836107-116836108 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.313G>T; p.G105C; 11:116836299-116836299 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.648C>T; p.Y216Y; 11:116835964-116835964 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.100C>T; p.R34*; 11:116837101-116837101 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.401A>C; p.E134A; 11:116836211-116836211 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.766G>T; p.A256S; 11:116835846-116835846 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.101G>A; p.R34Q; 11:116837100-116837100 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.315C>T; p.G105G; 11:116836297-116836297 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.44G>T; p.G15V; 11:116837157-116837157 |
skin | malignant_melanoma | Substitution - Missense |
c.518G>A; p.R173H; 11:116836094-116836094 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.76G>A; p.E26K; 11:116837125-116837125 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |