Entrez Gene

Basic Information
Gene ID	9447
Name	AIM2
Synonymous	absent in melanoma 2;AIM2;absent in melanoma 2
Definition	interferon-inducible protein AIM2
Position	1q22
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.420_421CC>AA; p.Q141K; 1:159066305-159066306	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.593A>G; p.K198R; 1:159066133-159066133	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.998C>G; p.T333S; 1:159063493-159063493	pancreas	carcinoma	Substitution - Missense
c.998C>G; p.T333S; 1:159063493-159063493	pancreas	carcinoma	Substitution - Missense
c.998C>G; p.T333S; 1:159063493-159063493	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.998C>G; p.T333S; 1:159063493-159063493	pancreas	carcinoma	Substitution - Missense
c.831G>C; p.K277N; 1:159063660-159063660	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.281C>T; p.S94L; 1:159068683-159068683	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.729C>T; p.I243I; 1:159065997-159065997	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - coding silent
c.85C>A; p.L29I; 1:159073415-159073415	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.603C>A; p.F201L; 1:159066123-159066123	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.165T>G; p.N55K; 1:159073335-159073335	kidney	other; neoplasm	Substitution - Missense
c.763C>T; p.L255F; 1:159065963-159065963	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.749C>T; p.P250L; 1:159065977-159065977	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.72G>A; p.R24R; 1:159073428-159073428	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.309A>C; p.Q103H; 1:159068655-159068655	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.778C>G; p.L260V; 1:159065948-159065948	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.446T>G; p.F149C; 1:159066280-159066280	pancreas	NS	Substitution - Missense
c.446T>G; p.F149C; 1:159066280-159066280	pancreas	carcinoma	Substitution - Missense
c.555G>A; p.K185K; 1:159066171-159066171	skin	malignant_melanoma	Substitution - coding silent
c.114C>T; p.G38G; 1:159073386-159073386	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.475C>A; p.L159M; 1:159066251-159066251	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.6G>C; p.E2D; 1:159073494-159073494	liver	carcinoma	Substitution - Missense
c.6G>C; p.E2D; 1:159073494-159073494	liver	carcinoma	Substitution - Missense
c.836delA; p.N279fs*6; 1:159063655-159063655	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.364C>T; p.R122C; 1:159068600-159068600	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.895G>A; p.E299K; 1:159063596-159063596	skin	malignant_melanoma	Substitution - Missense
c.170G>T; p.G57V; 1:159073330-159073330	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1006G>T; p.V336F; 1:159062718-159062718	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.961G>A; p.G321R; 1:159063530-159063530	skin	malignant_melanoma	Substitution - Missense
c.173C>T; p.A58V; 1:159073327-159073327	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.612G>A; p.K204K; 1:159066114-159066114	skin	malignant_melanoma	Substitution - coding silent
c.439G>C; p.E147Q; 1:159066287-159066287	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.267T>A; p.D89E; 1:159068697-159068697	skin	malignant_melanoma	Substitution - Missense
c.1027_1028insA; p.T343fs*>2; 1:159062696-159062697	stomach	carcinoma; diffuse_adenocarcinoma	Insertion - Frameshift
c.640C>G; p.R214G; 1:159066086-159066086	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1027_1028insA; p.T343fs*>2; 1:159062696-159062697	central_nervous_system; thalamus	glioma; astrocytoma_Grade_IV	Insertion - Frameshift
c.94G>T; p.E32*; 1:159073406-159073406	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.550G>T; p.E184*; 1:159066176-159066176	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.717G>T; p.P239P; 1:159066009-159066009	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.666T>C; p.N222N; 1:159066060-159066060	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1026_1027delAA; p.K342fs*>2; 1:159062697-159062698	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1026_1027delAA; p.K342fs*>2; 1:159062697-159062698	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.1026_1027delAA; p.K342fs*>2; 1:159062697-159062698	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.100A>G; p.N34D; 1:159073400-159073400	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.841T>G; p.L281V; 1:159063650-159063650	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.19G>A; p.E7K; 1:159073481-159073481	skin	malignant_melanoma	Substitution - Missense
c.677G>A; p.R226H; 1:159066049-159066049	urinary_tract; bladder	carcinoma	Substitution - Missense
c.612G>C; p.K204N; 1:159066114-159066114	urinary_tract; bladder	carcinoma	Substitution - Missense
c.205T>A; p.F69I; 1:159073295-159073295	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.410A>G; p.Q137R; 1:159066316-159066316	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.410A>G; p.Q137R; 1:159066316-159066316	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.949C>A; p.L317M; 1:159063542-159063542	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.689C>A; p.A230D; 1:159066037-159066037	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.556G>A; p.E186K; 1:159066170-159066170	skin	malignant_melanoma	Substitution - Missense
c.556G>A; p.E186K; 1:159066170-159066170	skin	malignant_melanoma	Substitution - Missense
c.942C>A; p.F314L; 1:159063549-159063549	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.590T>C; p.L197P; 1:159066136-159066136	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.421C>A; p.Q141K; 1:159066305-159066305	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.670G>A; p.A224T; 1:159066056-159066056	large_intestine; colon	adenoma	Substitution - Missense
c.25C>A; p.L9I; 1:159073475-159073475	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.641G>A; p.R214Q; 1:159066085-159066085	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.525G>T; p.E175D; 1:159066201-159066201	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.828G>T; p.K276N; 1:159063663-159063663	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.199C>G; p.R67G; 1:159073301-159073301	breast	carcinoma	Substitution - Missense
c.175G>T; p.V59L; 1:159073325-159073325	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.491C>G; p.P164R; 1:159066235-159066235	eye; uveal_tract	malignant_melanoma; spindle	Substitution - Missense
c.726T>A; p.I242I; 1:159066000-159066000	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.575T>G; p.V192G; 1:159066151-159066151	skin	malignant_melanoma	Substitution - Missense
c.548C>A; p.T183K; 1:159066178-159066178	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.113G>A; p.G38D; 1:159073387-159073387	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.395A>T; p.K132M; 1:159068569-159068569	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.980C>T; p.T327I; 1:159063511-159063511	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.204T>A; p.I68I; 1:159073296-159073296	skin	malignant_melanoma	Substitution - coding silent
c.919G>A; p.G307R; 1:159063572-159063572	skin	malignant_melanoma	Substitution - Missense
c.409C>A; p.Q137K; 1:159066317-159066317	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.194C>T; p.T65I; 1:159073306-159073306	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.194C>T; p.T65I; 1:159073306-159073306	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.180T>C; p.S60S; 1:159073320-159073320	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.439G>T; p.E147*; 1:159066287-159066287	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.931C>T; p.R311*; 1:159063560-159063560	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.931C>T; p.R311*; 1:159063560-159063560	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.52A>T; p.T18S; 1:159073448-159073448	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.389A>G; p.H130R; 1:159068575-159068575	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.545C>A; p.A182D; 1:159066181-159066181	breast	carcinoma	Substitution - Missense
c.411G>T; p.Q137H; 1:159066315-159066315	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.958A>C; p.N320H; 1:159063533-159063533	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1027delA; p.T343fs?; 1:159062697-159062697	oesophagus	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1027delA; p.T343fs?; 1:159062697-159062697	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1027delA; p.T343fs?; 1:159062697-159062697	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1027delA; p.T343fs?; 1:159062697-159062697	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1027A>C; p.T343P; 1:159062697-159062697	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1027delA; p.T343fs?; 1:159062697-159062697	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.1027delA; p.T343fs?; 1:159062697-159062697	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.1027delA; p.T343fs?; 1:159062697-159062697	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1027delA; p.T343fs?; 1:159062697-159062697	stomach	carcinoma; diffuse_adenocarcinoma	Deletion - Frameshift
c.1027delA; p.T343fs?; 1:159062697-159062697	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.199C>T; p.R67C; 1:159073301-159073301	skin	malignant_melanoma	Substitution - Missense
c.1027delA; p.T343fs?; 1:159062697-159062697	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1027delA; p.T343fs?; 1:159062697-159062697	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1027delA; p.T343fs?; 1:159062697-159062697	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1027delA; p.T343fs?; 1:159062697-159062697	oesophagus	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1027delA; p.T343fs?; 1:159062697-159062697	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1027delA; p.T343fs?; 1:159062697-159062697	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.1027delA; p.T343fs?; 1:159062697-159062697	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.394A>C; p.K132Q; 1:159068570-159068570	breast	carcinoma	Substitution - Missense
c.829A>G; p.K277E; 1:159063662-159063662	skin	malignant_melanoma	Substitution - Missense
c.492C>A; p.P164P; 1:159066234-159066234	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.607C>A; p.P203T; 1:159066119-159066119	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.521A>C; p.Q174P; 1:159066205-159066205	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.521A>C; p.Q174P; 1:159066205-159066205	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.599A>C; p.K200T; 1:159066127-159066127	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.986G>T; p.G329V; 1:159063505-159063505	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.137T>A; p.I46K; 1:159073363-159073363	pleura	pulmonary_blastoma	Substitution - Missense
c.564C>T; p.F188F; 1:159066162-159066162	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1017C>A; p.A339A; 1:159062707-159062707	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.669C>T; p.S223S; 1:159066057-159066057	central_nervous_system; brain	glioma	Substitution - coding silent
c.15C>A; p.Y5*; 1:159073485-159073485	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.128C>T; p.A43V; 1:159073372-159073372	breast	carcinoma	Substitution - Missense
c.984T>C; p.S328S; 1:159063507-159063507	breast	carcinoma	Substitution - coding silent
c.477G>A; p.L159L; 1:159066249-159066249	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.477G>A; p.L159L; 1:159066249-159066249	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.189G>A; p.M63I; 1:159073311-159073311	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.51C>T; p.I17I; 1:159073449-159073449	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.959delA; p.N320fs*7; 1:159063532-159063532	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.959delA; p.N320fs*7; 1:159063532-159063532	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift

COSMIC somatic mutation [Top]