Entrez Gene

Basic Information
Gene ID	5897
Name	RAG2
Synonymous	recombination activating gene 2;RAG2;recombination activating gene 2
Definition	V(D)J recombination-activating protein 2
Position	11p13
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.508_509insA; p.W172fs*3; 11:36593660-36593661	large_intestine; colon	carcinoma	Insertion - Frameshift
c.1473C>T; p.P491P; 11:36592696-36592696	central_nervous_system; brain	glioma	Substitution - coding silent
c.1012G>T; p.V338F; 11:36593157-36593157	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.443G>A; p.R148Q; 11:36593726-36593726	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1196T>G; p.F399C; 11:36592973-36592973	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.288G>A; p.G96G; 11:36593881-36593881	skin	malignant_melanoma	Substitution - coding silent
c.986T>G; p.L329R; 11:36593183-36593183	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1153T>C; p.C385R; 11:36593016-36593016	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.362C>A; p.T121N; 11:36593807-36593807	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.619C>T; p.H207Y; 11:36593550-36593550	skin	malignant_melanoma	Substitution - Missense
c.619C>T; p.H207Y; 11:36593550-36593550	skin	malignant_melanoma	Substitution - Missense
c.870C>T; p.I290I; 11:36593299-36593299	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.339T>C; p.V113V; 11:36593830-36593830	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1029C>A; p.F343L; 11:36593140-36593140	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1335C>A; p.Y445*; 11:36592834-36592834	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.463C>A; p.L155I; 11:36593706-36593706	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.967G>A; p.G323R; 11:36593202-36593202	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.22G>A; p.V8I; 11:36594147-36594147	pancreas	carcinoma; adenocarcinoma	Substitution - Missense
c.1092C>A; p.N364K; 11:36593077-36593077	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1163C>G; p.A388G; 11:36593006-36593006	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1024G>A; p.G342R; 11:36593145-36593145	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.841A>C; p.N281H; 11:36593328-36593328	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.217C>T; p.R73C; 11:36593952-36593952	breast	carcinoma	Substitution - Missense
c.774C>T; p.V258V; 11:36593395-36593395	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.753C>T; p.V251V; 11:36593416-36593416	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.452G>A; p.S151N; 11:36593717-36593717	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.865A>G; p.I289V; 11:36593304-36593304	skin	malignant_melanoma	Substitution - Missense
c.1381C>A; p.L461M; 11:36592788-36592788	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.406G>T; p.A136S; 11:36593763-36593763	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1163C>A; p.A388E; 11:36593006-36593006	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.206T>C; p.L69P; 11:36593963-36593963	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.306G>C; p.E102D; 11:36593863-36593863	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1154G>A; p.C385Y; 11:36593015-36593015	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.446G>A; p.G149E; 11:36593723-36593723	skin	malignant_melanoma	Substitution - Missense
c.1049G>A; p.C350Y; 11:36593120-36593120	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1524delA; p.G509fs*6; 11:36592645-36592645	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1163C>T; p.A388V; 11:36593006-36593006	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1163C>T; p.A388V; 11:36593006-36593006	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.410G>T; p.R137I; 11:36593759-36593759	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.475C>A; p.R159S; 11:36593694-36593694	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.628A>G; p.I210V; 11:36593541-36593541	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; Burkitt_lymphoma	Substitution - Missense
c.898C>T; p.R300C; 11:36593271-36593271	skin	malignant_melanoma	Substitution - Missense
c.898C>T; p.R300C; 11:36593271-36593271	skin	malignant_melanoma	Substitution - Missense
c.1512C>A; p.S504S; 11:36592657-36592657	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1388A>G; p.E463G; 11:36592781-36592781	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1348G>C; p.D450H; 11:36592821-36592821	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.231T>C; p.T77T; 11:36593938-36593938	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1446G>T; p.V482V; 11:36592723-36592723	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.513_514insA; p.W172fs*3; 11:36593655-36593656	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.589C>A; p.L197I; 11:36593580-36593580	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.418C>T; p.H140Y; 11:36593751-36593751	skin; upper_arm	malignant_melanoma	Substitution - Missense
c.1120G>A; p.D374N; 11:36593049-36593049	skin	malignant_melanoma	Substitution - Missense
c.1120G>A; p.D374N; 11:36593049-36593049	skin	malignant_melanoma	Substitution - Missense
c.268C>G; p.Q90E; 11:36593901-36593901	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1221A>C; p.E407D; 11:36592948-36592948	central_nervous_system; brain	glioma	Substitution - Missense
c.877G>A; p.E293K; 11:36593292-36593292	skin	malignant_melanoma	Substitution - Missense
c.877G>A; p.E293K; 11:36593292-36593292	skin	malignant_melanoma	Substitution - Missense
c.67A>G; p.N23D; 11:36594102-36594102	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.724delC; p.L242fs*6; 11:36593445-36593445	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Deletion - Frameshift
c.704G>T; p.R235I; 11:36593465-36593465	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.704G>T; p.R235I; 11:36593465-36593465	large_intestine; colon	carcinoma	Substitution - Missense
c.704G>T; p.R235I; 11:36593465-36593465	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1201A>G; p.T401A; 11:36592968-36592968	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.601C>T; p.Q201*; 11:36593568-36593568	skin	malignant_melanoma	Substitution - Nonsense
c.1471C>T; p.P491S; 11:36592698-36592698	skin	malignant_melanoma	Substitution - Missense
c.1011A>G; p.Q337Q; 11:36593158-36593158	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1516C>T; p.R506C; 11:36592653-36592653	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.259G>C; p.E87Q; 11:36593910-36593910	urinary_tract; bladder	carcinoma	Substitution - Missense
c.99A>T; p.Q33H; 11:36594070-36594070	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.684C>T; p.I228I; 11:36593485-36593485	skin; arm	malignant_melanoma	Substitution - coding silent
c.284G>A; p.G95E; 11:36593885-36593885	skin	malignant_melanoma	Substitution - Missense
c.1536A>C; p.K512N; 11:36592633-36592633	pancreas	carcinoma	Substitution - Missense
c.1478G>A; p.R493K; 11:36592691-36592691	skin	malignant_melanoma	Substitution - Missense
c.535C>A; p.L179M; 11:36593634-36593634	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1502C>A; p.P501Q; 11:36592667-36592667	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.492T>C; p.S164S; 11:36593677-36593677	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1110A>C; p.E370D; 11:36593059-36593059	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.221A>C; p.Y74S; 11:36593948-36593948	thyroid	other; neoplasm	Substitution - Missense
c.449A>G; p.K150R; 11:36593720-36593720	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.153G>A; p.K51K; 11:36594016-36594016	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.823G>A; p.G275S; 11:36593346-36593346	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1547C>G; p.P516R; 11:36592622-36592622	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.726G>T; p.L242L; 11:36593443-36593443	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.24C>T; p.V8V; 11:36594145-36594145	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1105A>G; p.T369A; 11:36593064-36593064	liver	carcinoma	Substitution - Missense
c.1105A>G; p.T369A; 11:36593064-36593064	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1271A>T; p.D424V; 11:36592898-36592898	skin	malignant_melanoma	Substitution - Missense
c.1105A>G; p.T369A; 11:36593064-36593064	liver	carcinoma	Substitution - Missense
c.1415G>A; p.G472E; 11:36592754-36592754	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1415G>A; p.G472E; 11:36592754-36592754	skin	malignant_melanoma	Substitution - Missense
c.1118G>A; p.G373E; 11:36593051-36593051	skin	malignant_melanoma	Substitution - Missense
c.1281C>A; p.I427I; 11:36592888-36592888	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.1246T>A; p.W416R; 11:36592923-36592923	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1118G>A; p.G373E; 11:36593051-36593051	skin	malignant_melanoma	Substitution - Missense
c.879G>T; p.E293D; 11:36593290-36593290	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.581C>A; p.S194*; 11:36593588-36593588	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.447G>A; p.G149G; 11:36593722-36593722	skin	malignant_melanoma	Substitution - coding silent
c.447G>A; p.G149G; 11:36593722-36593722	skin	malignant_melanoma	Substitution - coding silent
c.447G>A; p.G149G; 11:36593722-36593722	skin	malignant_melanoma	Substitution - coding silent
c.820G>T; p.V274F; 11:36593349-36593349	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.820G>T; p.V274F; 11:36593349-36593349	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.516G>A; p.W172*; 11:36593653-36593653	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.693C>A; p.A231A; 11:36593476-36593476	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1082C>T; p.T361I; 11:36593087-36593087	breast	carcinoma	Substitution - Missense
c.1155T>C; p.C385C; 11:36593014-36593014	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1155T>C; p.C385C; 11:36593014-36593014	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1155T>C; p.C385C; 11:36593014-36593014	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1155T>C; p.C385C; 11:36593014-36593014	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.661G>A; p.G221R; 11:36593508-36593508	skin	malignant_melanoma	Substitution - Missense
c.1044G>C; p.L348F; 11:36593125-36593125	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1132T>C; p.F378L; 11:36593037-36593037	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.279C>T; p.I93I; 11:36593890-36593890	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1340C>T; p.S447F; 11:36592829-36592829	skin	malignant_melanoma	Substitution - Missense
c.1506G>A; p.M502I; 11:36592663-36592663	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1506G>A; p.M502I; 11:36592663-36592663	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1506G>A; p.M502I; 11:36592663-36592663	skin	malignant_melanoma	Substitution - Missense
c.1506G>A; p.M502I; 11:36592663-36592663	skin	malignant_melanoma	Substitution - Missense
c.357G>T; p.K119N; 11:36593812-36593812	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1438G>C; p.E480Q; 11:36592731-36592731	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1496delA; p.K499fs*4; 11:36592673-36592673	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1496delA; p.K499fs*4; 11:36592673-36592673	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.882C>A; p.D294E; 11:36593287-36593287	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1496delA; p.K499fs*4; 11:36592673-36592673	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1496delA; p.K499fs*4; 11:36592673-36592673	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.1433G>T; p.C478F; 11:36592736-36592736	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1429T>A; p.Y477N; 11:36592740-36592740	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1496delA; p.K499fs*4; 11:36592673-36592673	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.245G>T; p.G82V; 11:36593924-36593924	prostate	carcinoma	Substitution - Missense
c.473G>A; p.G158E; 11:36593696-36593696	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1463T>C; p.L488P; 11:36592706-36592706	skin	malignant_melanoma	Substitution - Missense
c.48G>T; p.Q16H; 11:36594121-36594121	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.509A>C; p.E170A; 11:36593660-36593660	urinary_tract; bladder	carcinoma	Substitution - Missense
c.871T>A; p.S291T; 11:36593298-36593298	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.479C>A; p.S160*; 11:36593690-36593690	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1485A>T; p.L495L; 11:36592684-36592684	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1307C>G; p.T436S; 11:36592862-36592862	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.885C>A; p.N295K; 11:36593284-36593284	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.105C>T; p.G35G; 11:36594064-36594064	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.832C>T; p.Q278*; 11:36593337-36593337	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.349A>G; p.N117D; 11:36593820-36593820	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.962A>G; p.N321S; 11:36593207-36593207	skin	malignant_melanoma	Substitution - Missense
c.1374C>T; p.C458C; 11:36592795-36592795	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1236G>T; p.E412D; 11:36592933-36592933	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.812T>G; p.F271C; 11:36593357-36593357	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1035C>A; p.F345L; 11:36593134-36593134	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.688C>G; p.P230A; 11:36593481-36593481	pancreas	carcinoma	Substitution - Missense
c.475C>T; p.R159C; 11:36593694-36593694	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.475C>T; p.R159C; 11:36593694-36593694	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1278T>C; p.D426D; 11:36592891-36592891	skin	malignant_melanoma	Substitution - coding silent
c.1276G>T; p.D426Y; 11:36592893-36592893	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1260C>T; p.C420C; 11:36592909-36592909	skin	malignant_melanoma	Substitution - coding silent
c.1524A>G; p.K508K; 11:36592645-36592645	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.892G>A; p.E298K; 11:36593277-36593277	skin	malignant_melanoma	Substitution - Missense
c.1480G>T; p.V494F; 11:36592689-36592689	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.728G>A; p.G243D; 11:36593441-36593441	oesophagus; upper_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.286G>T; p.G96W; 11:36593883-36593883	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.888G>T; p.K296N; 11:36593281-36593281	liver	carcinoma	Substitution - Missense
c.1235A>G; p.E412G; 11:36592934-36592934	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.342C>G; p.C114W; 11:36593827-36593827	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.145G>C; p.D49H; 11:36594024-36594024	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.332C>A; p.S111Y; 11:36593837-36593837	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.589C>T; p.L197F; 11:36593580-36593580	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.153G>T; p.K51N; 11:36594016-36594016	skin	malignant_melanoma	Substitution - Missense
c.1517G>A; p.R506H; 11:36592652-36592652	large_intestine	adenoma	Substitution - Missense
c.418C>A; p.H140N; 11:36593751-36593751	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.814G>T; p.V272F; 11:36593355-36593355	pancreas	NS	Substitution - Missense
c.814G>T; p.V272F; 11:36593355-36593355	pancreas	carcinoma	Substitution - Missense
c.950G>A; p.W317*; 11:36593219-36593219	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3G>A; p.M1I; 11:36594166-36594166	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.968G>A; p.G323E; 11:36593201-36593201	skin	malignant_melanoma	Substitution - Missense
c.968G>A; p.G323E; 11:36593201-36593201	skin	malignant_melanoma	Substitution - Missense
c.968G>A; p.G323E; 11:36593201-36593201	skin; trunk	malignant_melanoma; nodular	Substitution - Missense
c.1320A>C; p.K440N; 11:36592849-36592849	adrenal_gland; adrenal_gland	adrenal_cortical_adenoma; aldosterone_producing	Substitution - Missense
c.968G>A; p.G323E; 11:36593201-36593201	skin; arm	malignant_melanoma	Substitution - Missense

COSMIC somatic mutation [Top]