Entrez Gene

Basic Information
Gene ID	5077
Name	PAX3
Synonymous	paired box 3;PAX3;paired box 3
Definition	paired box homeotic gene 3\|paired box protein Pax-3\|paired domain gene 3\|paired domain gene HuP2
Position	2q35
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC confirmed somatic mutation [Top]

c.885T>C; p.P295P; 2:222221295-222221295	breast	carcinoma	Substitution - coding silent
c.578G>A; p.S193N; 2:222294175-222294175	breast	carcinoma	Substitution - Missense
c.1147A>C; p.T383P; 2:222220166-222220166	breast	carcinoma	Substitution - Missense
c.1462A>G; p.I488V; 2:222201230-222201230	breast	carcinoma	Substitution - Missense
c.442G>A; p.V148M; 2:222295537-222295537	breast	carcinoma	Substitution - Missense
c.1121C>T; p.S374L; 2:222220192-222220192	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1231G>A; p.A411T; 2:222202133-222202133	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1191C>T; p.T397T; 2:222202173-222202173	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.219G>A; p.S73S; 2:222297080-222297080	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.735C>G; p.D245E; 2:222232135-222232135	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.735C>G; p.D245E; 2:222232135-222232135	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1215G>A; p.Q405Q; 2:222202149-222202149	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.659G>A; p.R220H; 2:222232211-222232211	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1450G>A; p.A484T; 2:222201413-222201413	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.688C>A; p.Q230K; 2:222232182-222232182	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.247G>A; p.V83I; 2:222297052-222297052	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1230C>T; p.Y410Y; 2:222202134-222202134	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1361G>T; p.S454I; 2:222202003-222202003	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.720A>G; p.R240R; 2:222232150-222232150	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1075A>C; p.T359P; 2:222220238-222220238	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1087T>A; p.F363I; 2:222220226-222220226	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1366A>G; p.T456A; 2:222201998-222201998	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1410G>A; p.Q470Q; 2:222201954-222201954	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.1302C>G; p.D434E; 2:222202062-222202062	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1275G>T; p.V425V; 2:222202089-222202089	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1443A>T; p.P481P; 2:222201420-222201420	kidney	other; neoplasm	Substitution - coding silent
c.110G>A; p.R37H; 2:222297189-222297189	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.396A>C; p.E132D; 2:222295583-222295583	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.18C>T; p.G6G; 2:222298598-222298598	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.719G>T; p.R240I; 2:222232151-222232151	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.719G>T; p.R240I; 2:222232151-222232151	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.195C>T; p.H65H; 2:222297104-222297104	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.202C>T; p.R68W; 2:222297097-222297097	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.126C>T; p.G42G; 2:222297173-222297173	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.981C>T; p.T327T; 2:222220332-222220332	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.230G>A; p.R77H; 2:222297069-222297069	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1060T>C; p.Y354H; 2:222220253-222220253	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1091C>A; p.S364Y; 2:222220222-222220222	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.829C>T; p.Q277*; 2:222221351-222221351	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.565G>A; p.D189N; 2:222294188-222294188	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.998C>T; p.P333L; 2:222220315-222220315	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1385C>T; p.P462L; 2:222201979-222201979	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.812G>A; p.R271H; 2:222221368-222221368	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1413T>C; p.Y471Y; 2:222201951-222201951	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.447G>A; p.P149P; 2:222295532-222295532	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.541G>A; p.E181K; 2:222294212-222294212	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.541G>A; p.E181K; 2:222294212-222294212	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1028C>T; p.T343M; 2:222220285-222220285	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.785G>A; p.R262Q; 2:222232085-222232085	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.433C>T; p.R145*; 2:222295546-222295546	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.879delG; p.F294fs*87; 2:222221301-222221301	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.467G>A; p.R156H; 2:222294286-222294286	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.707G>A; p.R236H; 2:222232163-222232163	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1230C>T; p.Y410Y; 2:222202134-222202134	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1230C>T; p.Y410Y; 2:222202134-222202134	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.373A>G; p.N125D; 2:222295606-222295606	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.373A>G; p.N125D; 2:222295606-222295606	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1249G>A; p.G417R; 2:222202115-222202115	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.283T>C; p.S95P; 2:222297016-222297016	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.714delT; p.F238fs*46; 2:222232156-222232156	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.939G>T; p.Q313H; 2:222221241-222221241	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.374A>G; p.N125S; 2:222295605-222295605	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.806A>G; p.N269S; 2:222221374-222221374	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1271C>T; p.T424M; 2:222202093-222202093	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1271C>T; p.T424M; 2:222202093-222202093	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1271C>T; p.T424M; 2:222202093-222202093	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1271C>T; p.T424M; 2:222202093-222202093	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1271C>T; p.T424M; 2:222202093-222202093	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.923C>T; p.S308L; 2:222221257-222221257	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.923C>T; p.S308L; 2:222221257-222221257	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.442G>A; p.V148M; 2:222295537-222295537	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1346G>A; p.C449Y; 2:222202018-222202018	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1507C>G; p.L503V; 2:222201185-222201185	liver	carcinoma	Substitution - Missense
c.1507C>G; p.L503V; 2:222201185-222201185	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.933T>C; p.S311S; 2:222221247-222221247	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.844C>G; p.Q282E; 2:222221336-222221336	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.912G>C; p.T304T; 2:222221268-222221268	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.821G>T; p.W274L; 2:222221359-222221359	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1127C>A; p.P376H; 2:222220186-222220186	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.597C>T; p.P199P; 2:222232273-222232273	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1093A>T; p.S365C; 2:222220220-222220220	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1232C>A; p.A411E; 2:222202132-222202132	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1071C>A; p.P357P; 2:222220242-222220242	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1207C>A; p.P403T; 2:222202157-222202157	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.381C>A; p.G127G; 2:222295598-222295598	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.189C>A; p.A63A; 2:222297110-222297110	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1442C>A; p.P481Q; 2:222201421-222201421	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1045G>T; p.D349Y; 2:222220268-222220268	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.867C>G; p.L289L; 2:222221313-222221313	NS	NS	Substitution - coding silent
c.1090T>G; p.S364A; 2:222220223-222220223	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1061A>T; p.Y354F; 2:222220252-222220252	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.375C>G; p.N125K; 2:222295604-222295604	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.707G>A; p.R236H; 2:222232163-222232163	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.302T>G; p.I101S; 2:222296997-222296997	ovary	other; neoplasm	Substitution - Missense
c.1388T>A; p.V463D; 2:222201976-222201976	pancreas	carcinoma	Substitution - Missense
c.1388T>A; p.V463D; 2:222201976-222201976	pancreas	carcinoma	Substitution - Missense
c.1388T>A; p.V463D; 2:222201976-222201976	pancreas	carcinoma	Substitution - Missense
c.1388T>A; p.V463D; 2:222201976-222201976	pancreas	carcinoma	Substitution - Missense
c.1388T>A; p.V463D; 2:222201976-222201976	pancreas	carcinoma	Substitution - Missense
c.1388T>A; p.V463D; 2:222201976-222201976	pancreas	carcinoma	Substitution - Missense
c.1388T>A; p.V463D; 2:222201976-222201976	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1230C>T; p.Y410Y; 2:222202134-222202134	pancreas	carcinoma	Substitution - coding silent
c.177C>T; p.I59I; 2:222297122-222297122	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.808C>T; p.R270C; 2:222221372-222221372	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1144C>T; p.P382S; 2:222220169-222220169	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.884C>T; p.P295L; 2:222221296-222221296	skin	malignant_melanoma	Substitution - Missense
c.1451+1G>A; p.?; 2:222201411-222201411	skin; abdomen	malignant_melanoma	Unknown
c.1465C>T; p.L489F; 2:222201227-222201227	skin; extremity	malignant_melanoma	Substitution - Missense
c.860A>G; p.N287S; 2:222221320-222221320	skin	malignant_melanoma	Substitution - Missense
c.1029G>A; p.T343T; 2:222220284-222220284	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1415G>A; p.G472E; 2:222201949-222201949	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.131T>C; p.V44A; 2:222297168-222297168	skin	malignant_melanoma	Substitution - Missense
c.586+6C>T; p.?; 2:222294161-222294161	skin	malignant_melanoma	Unknown
c.942C>T; p.P314P; 2:222221238-222221238	skin	malignant_melanoma	Substitution - coding silent
c.806A>G; p.N269S; 2:222221374-222221374	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1414G>A; p.G472R; 2:222201950-222201950	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.719G>T; p.R240I; 2:222232151-222232151	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.458C>A; p.S153Y; 2:222294295-222294295	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.658C>T; p.R220C; 2:222232212-222232212	stomach	adenocarcinoma	Substitution - Missense
c.911C>T; p.T304M; 2:222221269-222221269	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1272G>T; p.T424T; 2:222202092-222202092	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - coding silent
c.853G>A; p.A285T; 2:222221327-222221327	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.874G>A; p.G292R; 2:222221306-222221306	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.211G>A; p.V71I; 2:222297088-222297088	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1231G>A; p.A411T; 2:222202133-222202133	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.879delG; p.F294fs*87; 2:222221301-222221301	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.564C>T; p.I188I; 2:222294189-222294189	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.374A>C; p.N125T; 2:222295605-222295605	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1277C>T; p.S426L; 2:222202087-222202087	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.540C>T; p.S180S; 2:222294213-222294213	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.849G>A; p.L283L; 2:222221331-222221331	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.523A>G; p.K175E; 2:222294230-222294230	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1107delC; p.F370fs*11; 2:222220206-222220206	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.200T>C; p.I67T; 2:222297099-222297099	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1122G>A; p.S374S; 2:222220191-222220191	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.568G>T; p.G190C; 2:222294185-222294185	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.568G>T; p.G190C; 2:222294185-222294185	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.1451+1G>C; p.?; 2:222201411-222201411	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1115C>A; p.P372H; 2:222220198-222220198	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.590C>T; p.S197L; 2:222232280-222232280	urinary_tract; bladder	carcinoma	Substitution - Missense
c.590C>T; p.S197L; 2:222232280-222232280	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1459C>G; p.Q487E; 2:222201233-222201233	urinary_tract; bladder	carcinoma	Substitution - Missense
c.836G>A; p.G279E; 2:222221344-222221344	urinary_tract; bladder	carcinoma	Substitution - Missense

Oncogene database

COSMIC confirmed somatic mutation [Top]

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