Entrez Gene

Basic Information
Gene ID	7430
Name	EZR

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
The somatic mutations from COSMIC database
c.331C>T; p.L111F; 6:158785445-158785445	skin	malignant_melanoma	Substitution - Missense
c.331C>T; p.L111F; 6:158785445-158785445	skin	malignant_melanoma	Substitution - Missense
c.179A>T; p.K60M; 6:158787121-158787121	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1756C>A; p.L586M; 6:158766919-158766919	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1476G>C; p.E492D; 6:158767381-158767381	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.162A>G; p.G54G; 6:158787138-158787138	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.116T>C; p.L39P; 6:158787184-158787184	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.194T>G; p.V65G; 6:158785582-158785582	ovary	other; neoplasm	Substitution - Missense
c.997G>T; p.V333L; 6:158770857-158770857	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1514G>A; p.S505N; 6:158767343-158767343	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.17A>G; p.N6S; 6:158789367-158789367	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1277C>T; p.A426V; 6:158769393-158769393	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1140G>T; p.K380N; 6:158769895-158769895	breast	carcinoma	Substitution - Missense
c.224C>T; p.P75L; 6:158785552-158785552	skin	malignant_melanoma	Substitution - Missense
c.655G>C; p.G219R; 6:158783563-158783563	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.224C>T; p.P75L; 6:158785552-158785552	skin; upper_leg	malignant_melanoma	Substitution - Missense
c.1088G>A; p.R363K; 6:158770766-158770766	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.756_757insA; p.F255fs*4; 6:158776446-158776447	lung	carcinoma; non_small_cell_carcinoma	Insertion - Frameshift
c.240C>T; p.F80F; 6:158785536-158785536	skin	malignant_melanoma	Substitution - coding silent
c.1479C>T; p.G493G; 6:158767378-158767378	central_nervous_system; brain	glioma	Substitution - coding silent
c.1479C>T; p.G493G; 6:158767378-158767378	liver	carcinoma	Substitution - coding silent
c.1479C>T; p.G493G; 6:158767378-158767378	liver	carcinoma	Substitution - coding silent
c.1500C>T; p.S500S; 6:158767357-158767357	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1000_1003delGAGA; p.E336fs*4; 6:158770851-158770854	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Deletion - Frameshift
c.1395G>T; p.L465L; 6:158767462-158767462	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.996C>T; p.T332T; 6:158770858-158770858	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.818G>A; p.R273H; 6:158771385-158771385	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1163G>A; p.R388H; 6:158769872-158769872	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1163G>A; p.R388H; 6:158769872-158769872	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1439C>T; p.P480L; 6:158767418-158767418	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.595G>A; p.E199K; 6:158783623-158783623	prostate	carcinoma	Substitution - Missense
c.1608C>T; p.S536S; 6:158767067-158767067	breast	carcinoma	Substitution - coding silent
c.1480G>C; p.A494P; 6:158767377-158767377	thyroid	other; neoplasm	Substitution - Missense
c.890C>T; p.P297L; 6:158771313-158771313	skin	malignant_melanoma	Substitution - Missense
c.13A>G; p.I5V; 6:158789371-158789371	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.97-8_97-7delTC; p.?; 6:158787210-158787211	skin	malignant_melanoma	Unknown
c.356delC; p.P119fs*34; 6:158785420-158785420	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1461G>A; p.E487E; 6:158767396-158767396	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1490C>T; p.T497M; 6:158767367-158767367	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.73A>G; p.T25A; 6:158789311-158789311	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.73A>G; p.T25A; 6:158789311-158789311	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.488T>G; p.L163R; 6:158784707-158784707	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.900C>G; p.I300M; 6:158771303-158771303	urinary_tract; bladder	carcinoma	Substitution - Missense
c.292A>G; p.T98A; 6:158785484-158785484	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1157C>T; p.A386V; 6:158769878-158769878	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.1013A>G; p.E338G; 6:158770841-158770841	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.997G>A; p.V333M; 6:158770857-158770857	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.997G>A; p.V333M; 6:158770857-158770857	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1090+8G>A; p.?; 6:158770756-158770756	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.1090+8G>A; p.?; 6:158770756-158770756	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.1536C>T; p.R512R; 6:158767321-158767321	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1063G>T; p.E355*; 6:158770791-158770791	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Nonsense
c.989G>C; p.R330T; 6:158770865-158770865	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.64C>A; p.P22T; 6:158789320-158789320	thyroid	other; neoplasm	Substitution - Missense
c.456G>A; p.L152L; 6:158785320-158785320	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.5C>T; p.P2L; 6:158818089-158818089	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.205G>T; p.E69*; 6:158785571-158785571	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.205G>T; p.E69*; 6:158785571-158785571	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.1048C>A; p.R350R; 6:158770806-158770806	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1428C>T; p.P476P; 6:158767429-158767429	skin	malignant_melanoma	Substitution - coding silent
c.1661A>G; p.H554R; 6:158767014-158767014	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1661A>G; p.H554R; 6:158767014-158767014	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1661A>G; p.H554R; 6:158767014-158767014	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.325G>C; p.G109R; 6:158785451-158785451	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1511C>G; p.S504C; 6:158767346-158767346	pancreas	carcinoma	Substitution - Missense
c.1049G>A; p.R350Q; 6:158770805-158770805	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1220C>T; p.A407V; 6:158769815-158769815	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1545G>C; p.E515D; 6:158767312-158767312	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.268G>A; p.A90T; 6:158785508-158785508	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.877C>T; p.R293C; 6:158771326-158771326	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.877C>T; p.R293C; 6:158771326-158771326	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.586C>T; p.Q196*; 6:158783632-158783632	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.405G>T; p.G135G; 6:158785371-158785371	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.241C>T; p.R81W; 6:158785535-158785535	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.195G>T; p.V65V; 6:158785581-158785581	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1612C>G; p.L538V; 6:158767063-158767063	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.801delT; p.F267fs*8; 6:158771402-158771402	breast	carcinoma	Deletion - Frameshift
c.355C>T; p.P119S; 6:158785421-158785421	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.414C>T; p.N138N; 6:158785362-158785362	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.744C>A; p.I248I; 6:158776459-158776459	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.538C>T; p.R180C; 6:158784657-158784657	thyroid	carcinoma; anaplastic_carcinoma	Substitution - Missense
c.1077G>C; p.K359N; 6:158770777-158770777	urinary_tract; bladder	carcinoma	Substitution - Missense
c.746C>T; p.S249F; 6:158776457-158776457	breast	carcinoma	Substitution - Missense
c.310C>T; p.L104F; 6:158785466-158785466	thyroid	carcinoma	Substitution - Missense
c.1572C>T; p.N524N; 6:158767285-158767285	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1650T>A; p.N550K; 6:158767025-158767025	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.565T>A; p.L189M; 6:158783653-158783653	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1205A>G; p.E402G; 6:158769830-158769830	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.282C>T; p.I94I; 6:158785494-158785494	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.330C>T; p.I110I; 6:158785446-158785446	skin	malignant_melanoma	Substitution - coding silent

The somatic mutations from COSMIC database