Entrez Gene

Basic Information
Gene ID	4194
Name	MDM4
Synonymous	MDM4, p53 regulator;MDM4;MDM4, p53 regulator
Definition	MDM4 protein variant G\|MDM4 protein variant Y\|MDM4-related protein 1\|Mdm4 p53 binding protein homolog\|double minute 4, human homolog of; p53-binding protein\|mdm2-like p53-binding protein\|protein Mdm4\|protein Mdmx
Position	1q32
Gene Type	protein-coding

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

c.59C>G; p.S20C; 1:204525577-204525577	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.59C>G; p.S20C; 1:204525577-204525577	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.160C>T; p.H54Y; 1:204530690-204530690	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1232G>A; p.G411E; 1:204549441-204549441	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.143_144delCT; p.T48fs*2; 1:204526424-204526425	breast	carcinoma	Deletion - Frameshift
c.421G>A; p.E141K; 1:204538218-204538218	breast	carcinoma	Substitution - Missense
c.780T>G; p.T260T; 1:204544642-204544642	breast	carcinoma	Substitution - coding silent
c.394A>T; p.S132C; 1:204537480-204537480	breast	carcinoma	Substitution - Missense
c.552T>C; p.S184S; 1:204542824-204542824	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Substitution - coding silent
c.479C>G; p.T160S; 1:204538276-204538276	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.479C>G; p.T160S; 1:204538276-204538276	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1012A>C; p.T338P; 1:204549221-204549221	central_nervous_system; brain	glioma	Substitution - Missense
c.45T>G; p.S15R; 1:204525563-204525563	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.45T>G; p.S15R; 1:204525563-204525563	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1365C>T; p.G455G; 1:204549574-204549574	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1178A>G; p.E393G; 1:204549387-204549387	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.460G>A; p.D154N; 1:204538257-204538257	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.220G>A; p.V74I; 1:204530750-204530750	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1431C>T; p.C477C; 1:204549640-204549640	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1029G>A; p.T343T; 1:204549238-204549238	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.367G>A; p.A123T; 1:204537453-204537453	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.537C>T; p.A179A; 1:204542809-204542809	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.459C>T; p.D153D; 1:204538256-204538256	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.343+9C>T; p.?; 1:204532255-204532255	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.1067G>A; p.G356E; 1:204549276-204549276	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; essential_thrombocythaemia	Substitution - Missense
c.853G>T; p.E285*; 1:204546827-204546827	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.607T>A; p.L203I; 1:204542879-204542879	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.851T>C; p.L284P; 1:204546825-204546825	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.697G>T; p.D233Y; 1:204544559-204544559	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1080T>C; p.P360P; 1:204549289-204549289	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.800T>C; p.V267A; 1:204544662-204544662	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.967T>A; p.C323S; 1:204549176-204549176	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.891G>T; p.E297D; 1:204546865-204546865	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.923A>C; p.E308A; 1:204549132-204549132	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.369A>G; p.A123A; 1:204537455-204537455	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1111G>A; p.V371I; 1:204549320-204549320	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.138G>T; p.M46I; 1:204526419-204526419	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.480C>A; p.T160T; 1:204538277-204538277	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.227G>A; p.C76Y; 1:204530757-204530757	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.227G>A; p.C76Y; 1:204530757-204530757	large_intestine; colon	carcinoma	Substitution - Missense
c.837delA; p.N281fs*10; 1:204546811-204546811	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1100C>T; p.S367L; 1:204549309-204549309	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1100C>T; p.S367L; 1:204549309-204549309	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.82C>T; p.R28*; 1:204526363-204526363	liver	carcinoma	Substitution - Nonsense
c.1100C>T; p.S367L; 1:204549309-204549309	liver	carcinoma	Substitution - Missense
c.670C>G; p.Q224E; 1:204542942-204542942	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1265C>T; p.T422I; 1:204549474-204549474	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.421G>C; p.E141Q; 1:204538218-204538218	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.512-1G>T; p.?; 1:204542783-204542783	lung	carcinoma; adenocarcinoma	Unknown
c.480C>A; p.T160T; 1:204538277-204538277	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.287+1G>T; p.?; 1:204530818-204530818	lung	carcinoma; small_cell_carcinoma	Unknown
c.775G>A; p.D259N; 1:204544637-204544637	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.611G>T; p.G204V; 1:204542883-204542883	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1141G>C; p.E381Q; 1:204549350-204549350	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1262G>A; p.R421K; 1:204549471-204549471	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.472C>G; p.L158V; 1:204538269-204538269	ovary	other; neoplasm	Substitution - Missense
c.472C>G; p.L158V; 1:204538269-204538269	ovary	other; neoplasm	Substitution - Missense
c.855G>A; p.E285E; 1:204546829-204546829	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.723G>C; p.L241F; 1:204544585-204544585	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.353A>T; p.Q118L; 1:204537439-204537439	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.353A>T; p.Q118L; 1:204537439-204537439	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.353A>T; p.Q118L; 1:204537439-204537439	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.353A>T; p.Q118L; 1:204537439-204537439	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.353A>T; p.Q118L; 1:204537439-204537439	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.353A>T; p.Q118L; 1:204537439-204537439	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1046T>C; p.I349T; 1:204549255-204549255	pancreas	carcinoma	Substitution - Missense
c.677T>C; p.V226A; 1:204544539-204544539	prostate	carcinoma	Substitution - Missense
c.786A>C; p.Q262H; 1:204544648-204544648	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.672+7T>C; p.?; 1:204542951-204542951	prostate	carcinoma	Unknown
c.770C>T; p.A257V; 1:204544632-204544632	skin	malignant_melanoma	Substitution - Missense
c.440G>A; p.R147K; 1:204538237-204538237	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1155T>A; p.L385L; 1:204549364-204549364	skin	malignant_melanoma	Substitution - coding silent
c.1094C>T; p.T365I; 1:204549303-204549303	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.298G>A; p.D100N; 1:204532201-204532201	skin	malignant_melanoma	Substitution - Missense
c.547A>G; p.T183A; 1:204542819-204542819	skin; neck	malignant_melanoma	Substitution - Missense
c.592C>T; p.L198L; 1:204542864-204542864	skin	malignant_melanoma	Substitution - coding silent
c.964C>T; p.R322C; 1:204549173-204549173	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1111G>A; p.V371I; 1:204549320-204549320	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.403C>A; p.Q135K; 1:204537489-204537489	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.667A>G; p.N223D; 1:204542939-204542939	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.562C>T; p.L188F; 1:204542834-204542834	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1223C>T; p.S408L; 1:204549432-204549432	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.905A>G; p.D302G; 1:204549114-204549114	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.905A>G; p.D302G; 1:204549114-204549114	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.1100C>T; p.S367L; 1:204549309-204549309	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.294C>G; p.L98L; 1:204532197-204532197	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.463A>G; p.I155V; 1:204538260-204538260	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.463A>G; p.I155V; 1:204538260-204538260	urinary_tract; bladder	carcinoma	Substitution - Missense
c.594G>A; p.L198L; 1:204542866-204542866	urinary_tract; bladder	carcinoma	Substitution - coding silent

Oncogene database

COSMIC confirmed somatic mutation [Top]

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