| Gene ID | 3654 |
| Symbol | IRAK1 |
| Synonymous | IRAK|pelle |
| Full name | interleukin-1 receptor-associated kinase 1 |
| Gene description | IRAK-1|Pelle homolog |
| Cytoband | Xq28 |
| Gene type | protein-coding |
| Synonymous | MIM:300283; HGNC:HGNC:6112; Ensembl:ENSG00000184216; HPRD:02235; Vega:OTTHUMG00000024228 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1162C>A; p.L388M; 23:154016511-154016511 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1997G>A; p.R666Q; 23:154012612-154012612 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.590C>T; p.P197L; 23:154018738-154018738 |
skin | malignant_melanoma | Substitution - Missense |
c.889G>A; p.E297K; 23:154018026-154018026 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.2074C>T; p.L692F; 23:154012535-154012535 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2074C>T; p.L692F; 23:154012535-154012535 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1830G>A; p.L610L; 23:154013143-154013143 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.920G>T; p.C307F; 23:154017057-154017057 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.280C>T; p.R94C; 23:154019455-154019455 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1892G>T; p.W631L; 23:154013081-154013081 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1175_1176CC>TT; p.P392L; 23:154016497-154016498 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1408G>A; p.A470T; 23:154014173-154014173 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1612A>G; p.I538V; 23:154013361-154013361 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.849C>A; p.F283L; 23:154018066-154018066 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.399G>T; p.R133R; 23:154019234-154019234 |
breast | carcinoma | Substitution - coding silent |
c.1768G>T; p.E590*; 23:154013205-154013205 |
salivary_gland | carcinoma; adenoid_cystic_carcinoma | Substitution - Nonsense |
c.1409C>T; p.A470V; 23:154014172-154014172 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.513G>A; p.P171P; 23:154019002-154019002 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1759G>A; p.E587K; 23:154013214-154013214 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.510A>C; p.P170P; 23:154019005-154019005 |
breast | carcinoma | Substitution - coding silent |
c.234C>T; p.A78A; 23:154019501-154019501 |
lung | carcinoid-endocrine_tumour; atypical | Substitution - coding silent |
c.1873A>G; p.T625A; 23:154013100-154013100 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.474C>T; p.L158L; 23:154019041-154019041 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1984A>G; p.I662V; 23:154012625-154012625 |
breast | carcinoma | Substitution - Missense |
c.483C>T; p.V161V; 23:154019032-154019032 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.443C>T; p.P148L; 23:154019072-154019072 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1579G>T; p.G527W; 23:154013394-154013394 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.369A>C; p.A123A; 23:154019264-154019264 |
pancreas | carcinoma | Substitution - coding silent |
c.1641C>A; p.Y547*; 23:154013332-154013332 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.397_398insC; p.R133fs*25; 23:154019235-154019236 |
large_intestine; colon | NS | Insertion - Frameshift |
c.1744C>T; p.P582S; 23:154013229-154013229 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1263G>C; p.Q421H; 23:154016071-154016071 |
breast | carcinoma; lobular_carcinoma | Substitution - Missense |
c.1263G>C; p.Q421H; 23:154016071-154016071 |
breast | carcinoma; lobular_carcinoma | Substitution - Missense |
c.1442G>A; p.R481K; 23:154014139-154014139 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1263G>C; p.Q421H; 23:154016071-154016071 |
breast | carcinoma | Substitution - Missense |
c.1028+2T>C; p.?; 23:154016947-154016947 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.1564C>T; p.Q522*; 23:154013409-154013409 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.938C>T; p.P313L; 23:154017039-154017039 |
skin | malignant_melanoma | Substitution - Missense |
c.1936G>A; p.A646T; 23:154012673-154012673 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1315G>T; p.E439*; 23:154014266-154014266 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1925T>C; p.V642A; 23:154013048-154013048 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1961C>T; p.S654L; 23:154012648-154012648 |
pancreas | carcinoma | Substitution - Missense |
c.1971A>G; p.P657P; 23:154012638-154012638 |
liver | carcinoma | Substitution - coding silent |
c.1615C>T; p.P539S; 23:154013358-154013358 |
skin | malignant_melanoma | Substitution - Missense |
c.1971A>G; p.P657P; 23:154012638-154012638 |
liver | carcinoma | Substitution - coding silent |
c.630C>A; p.H210Q; 23:154018698-154018698 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1595C>T; p.S532L; 23:154013378-154013378 |
thyroid | other; neoplasm | Substitution - Missense |
c.325C>T; p.P109S; 23:154019308-154019308 |
skin | malignant_melanoma | Substitution - Missense |
c.1595C>T; p.S532L; 23:154013378-154013378 |
thyroid | other; neoplasm | Substitution - Missense |
c.1626G>A; p.P542P; 23:154013347-154013347 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.340A>G; p.T114A; 23:154019293-154019293 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1141A>T; p.T381S; 23:154016532-154016532 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1973C>T; p.P658L; 23:154012636-154012636 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1319A>G; p.E440G; 23:154014262-154014262 |
skin; scalp | malignant_melanoma | Substitution - Missense |
c.1973C>T; p.P658L; 23:154012636-154012636 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1026G>C; p.K342N; 23:154016951-154016951 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1026G>C; p.K342N; 23:154016951-154016951 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.1318G>A; p.E440K; 23:154014263-154014263 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1979T>C; p.I660T; 23:154012630-154012630 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1544A>G; p.Y515C; 23:154013429-154013429 |
salivary_gland | carcinoma; adenoid_cystic_carcinoma | Substitution - Missense |
c.1602C>A; p.A534A; 23:154013371-154013371 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1277C>T; p.T426M; 23:154016057-154016057 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.675C>T; p.C225C; 23:154018653-154018653 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2098G>A; p.D700N; 23:154011900-154011900 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.2098G>A; p.D700N; 23:154011900-154011900 |
pancreas | carcinoma | Substitution - Missense |
c.1352G>T; p.S451I; 23:154014229-154014229 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.671G>A; p.G224E; 23:154018657-154018657 |
skin | malignant_melanoma | Substitution - Missense |
c.880G>A; p.G294S; 23:154018035-154018035 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.963T>A; p.G321G; 23:154017014-154017014 |
breast | carcinoma | Substitution - coding silent |
c.1969C>T; p.P657S; 23:154012640-154012640 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1997G>T; p.R666L; 23:154012612-154012612 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1750C>A; p.Q584K; 23:154013223-154013223 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.60C>A; p.Y20*; 23:154019753-154019753 |
thyroid | other; neoplasm | Substitution - Nonsense |
c.1235T>C; p.V412A; 23:154016438-154016438 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1234G>A; p.V412M; 23:154016439-154016439 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1234G>A; p.V412M; 23:154016439-154016439 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1642G>A; p.V548M; 23:154013331-154013331 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2068A>G; p.S690G; 23:154012541-154012541 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2068A>G; p.S690G; 23:154012541-154012541 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.2068A>G; p.S690G; 23:154012541-154012541 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.2068A>G; p.S690G; 23:154012541-154012541 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.944G>A; p.R315Q; 23:154017033-154017033 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1962G>A; p.S654S; 23:154012647-154012647 |
breast | carcinoma | Substitution - coding silent |
c.618C>A; p.S206S; 23:154018710-154018710 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1471C>G; p.L491V; 23:154014110-154014110 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1579G>A; p.G527R; 23:154013394-154013394 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.282T>C; p.R94R; 23:154019453-154019453 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1359G>C; p.Q453H; 23:154014222-154014222 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.34G>A; p.A12T; 23:154019779-154019779 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1619delC; p.P540fs*53; 23:154013354-154013354 |
oesophagus | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1619delC; p.P540fs*53; 23:154013354-154013354 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1619delC; p.P540fs*53; 23:154013354-154013354 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1328A>C; p.E443A; 23:154014253-154014253 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.895C>T; p.R299C; 23:154018020-154018020 |
skin | malignant_melanoma | Substitution - Missense |
c.838C>T; p.Q280*; 23:154018077-154018077 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.331C>T; p.P111S; 23:154019302-154019302 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1887G>C; p.S629S; 23:154013086-154013086 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1457C>T; p.P486L; 23:154014124-154014124 |
NS | malignant_melanoma | Substitution - Missense |
c.441T>C; p.F147F; 23:154019074-154019074 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.910-7A>G; p.?; 23:154017074-154017074 |
liver | carcinoma | Unknown |
c.308A>C; p.H103P; 23:154019325-154019325 |
pancreas | carcinoma | Substitution - Missense |