Entrez Gene

Basic Information
Gene ID	54845
Name	ESRP1
Synonymous	epithelial splicing regulatory protein 1;ESRP1;epithelial splicing regulatory protein 1
Definition	RNA binding motif protein 35A\|RNA-binding motif protein 35A\|RNA-binding protein 35A
Position	8q22.1
Gene Type	protein-coding
Mutation summary:	Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72

Mutation summary in protein domains

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Loss of Function mutations compare to missense mutations

Top

The ratio of the loss-of-function mutations over missense mutations is 0.37.

The copy number variations for various cancers

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.202A>G; p.T68A; 8:94642025-94642025	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.165G>A; p.P55P; 8:94641988-94641988	skin	malignant_melanoma	Substitution - coding silent
c.274G>A; p.V92M; 8:94643315-94643315	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1233G>C; p.Q411H; 8:94668250-94668250	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.23_25delTGG; p.V10delV; 8:94641341-94641343	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.1008G>A; p.T336T; 8:94668025-94668025	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1157C>T; p.A386V; 8:94668174-94668174	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1157C>T; p.A386V; 8:94668174-94668174	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.123C>T; p.A41A; 8:94641441-94641441	skin	malignant_melanoma	Substitution - coding silent
c.1167G>C; p.K389N; 8:94668184-94668184	oesophagus	carcinoma	Substitution - Missense
c.1194C>A; p.Y398*; 8:94668211-94668211	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1244G>A; p.R415Q; 8:94671463-94671463	skin	malignant_melanoma	Substitution - Missense
c.870G>T; p.M290I; 8:94665041-94665041	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.710C>T; p.S237L; 8:94664762-94664762	skin	malignant_melanoma	Substitution - Missense
c.419G>A; p.R140Q; 8:94646211-94646211	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1681G>C; p.V561L; 8:94678244-94678244	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1008G>T; p.T336T; 8:94668025-94668025	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.523C>T; p.R175*; 8:94662304-94662304	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.799_800GG>AA; p.G267K; 8:94664970-94664971	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1126C>T; p.L376F; 8:94668143-94668143	skin	malignant_melanoma	Substitution - Missense
c.1558G>T; p.V520F; 8:94674413-94674413	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1405G>A; p.A469T; 8:94671624-94671624	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1837T>C; p.Y613H; 8:94692705-94692705	soft_tissue; striated_muscle	rhabdomyosarcoma	Substitution - Missense
c.399C>A; p.F133L; 8:94646191-94646191	urinary_tract; bladder	carcinoma	Substitution - Missense
c.24G>T; p.L8F; 8:94641342-94641342	skin	malignant_melanoma	Substitution - Missense
c.897A>T; p.K299N; 8:94665162-94665162	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1957C>A; p.Q653K; 8:94692825-94692825	skin	malignant_melanoma	Substitution - Missense
c.833A>G; p.H278R; 8:94665004-94665004	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.702G>A; p.W234*; 8:94664754-94664754	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.702G>A; p.W234*; 8:94664754-94664754	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.240G>A; p.Q80Q; 8:94642063-94642063	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1098T>A; p.D366E; 8:94668115-94668115	skin	malignant_melanoma	Substitution - Missense
c.1069G>A; p.E357K; 8:94668086-94668086	skin	malignant_melanoma	Substitution - Missense
c.1069G>A; p.E357K; 8:94668086-94668086	skin	malignant_melanoma	Substitution - Missense
c.47C>T; p.A16V; 8:94641365-94641365	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1616G>A; p.R539Q; 8:94674471-94674471	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.790C>T; p.R264*; 8:94664961-94664961	skin	malignant_melanoma	Substitution - Nonsense
c.1616G>A; p.R539Q; 8:94674471-94674471	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.524G>A; p.R175Q; 8:94662305-94662305	skin	malignant_melanoma	Substitution - Missense
c.283G>T; p.E95*; 8:94643324-94643324	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2017G>T; p.E673*; 8:94696909-94696909	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1140G>C; p.E380D; 8:94668157-94668157	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.118C>T; p.L40L; 8:94641436-94641436	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1117G>A; p.A373T; 8:94668134-94668134	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1117G>A; p.A373T; 8:94668134-94668134	central_nervous_system; brain	glioma	Substitution - Missense
c.985C>T; p.R329C; 8:94668002-94668002	skin	malignant_melanoma	Substitution - Missense
c.1007C>T; p.T336M; 8:94668024-94668024	bone; pelvis	chondrosarcoma	Substitution - Missense
c.471C>T; p.D157D; 8:94646263-94646263	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1552G>T; p.V518F; 8:94674407-94674407	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.471C>T; p.D157D; 8:94646263-94646263	breast	carcinoma	Substitution - coding silent
c.1253C>T; p.S418L; 8:94671472-94671472	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.424G>C; p.E142Q; 8:94646216-94646216	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.982G>C; p.V328L; 8:94667999-94667999	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.915C>T; p.F305F; 8:94665180-94665180	skin	malignant_melanoma	Substitution - coding silent
c.868A>T; p.M290L; 8:94665039-94665039	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1753G>A; p.A585T; 8:94678316-94678316	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1419T>C; p.R473R; 8:94671638-94671638	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1806C>A; p.P602P; 8:94678369-94678369	skin	malignant_melanoma	Substitution - coding silent
c.1243C>T; p.R415*; 8:94671462-94671462	skin	malignant_melanoma	Substitution - Nonsense
c.1628C>T; p.S543F; 8:94674483-94674483	skin	malignant_melanoma	Substitution - Missense
c.1535A>C; p.N512T; 8:94674390-94674390	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1714T>C; p.S572P; 8:94678277-94678277	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.211G>C; p.D71H; 8:94642034-94642034	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.775C>G; p.L259V; 8:94664946-94664946	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1797G>T; p.A599A; 8:94678360-94678360	breast	carcinoma	Substitution - coding silent
c.1600G>A; p.G534R; 8:94674455-94674455	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.424G>T; p.E142*; 8:94646216-94646216	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1506T>A; p.F502L; 8:94674361-94674361	skin	malignant_melanoma	Substitution - Missense
c.414T>A; p.D138E; 8:94646206-94646206	liver	carcinoma	Substitution - Missense
c.1743G>A; p.Q581Q; 8:94678306-94678306	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1863C>T; p.S621S; 8:94692731-94692731	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1615C>T; p.R539*; 8:94674470-94674470	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1615C>T; p.R539*; 8:94674470-94674470	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1386G>T; p.L462L; 8:94671605-94671605	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.710C>G; p.S237*; 8:94664762-94664762	prostate	carcinoma; adenocarcinoma	Substitution - Nonsense
c.688C>T; p.R230*; 8:94664740-94664740	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.986G>A; p.R329H; 8:94668003-94668003	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1655C>T; p.S552F; 8:94678218-94678218	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1527_1528insA; p.N512fs*8; 8:94674382-94674383	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1990A>C; p.N664H; 8:94696882-94696882	peritoneum; appendix	other; pseudomyxoma_peritonei	Substitution - Missense
c.449C>T; p.S150L; 8:94646241-94646241	skin	malignant_melanoma	Substitution - Missense
c.1696G>A; p.A566T; 8:94678259-94678259	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.418C>T; p.R140*; 8:94646210-94646210	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.443C>A; p.P148H; 8:94646235-94646235	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.692G>A; p.G231D; 8:94664744-94664744	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.433A>G; p.K145E; 8:94646225-94646225	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.148G>A; p.E50K; 8:94641971-94641971	breast	carcinoma	Substitution - Missense
c.1760A>G; p.Y587C; 8:94678323-94678323	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.129G>A; p.K43K; 8:94641447-94641447	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1315C>T; p.P439S; 8:94671534-94671534	thyroid	carcinoma	Substitution - Missense
c.644+1G>A; p.?; 8:94662556-94662556	urinary_tract; bladder	carcinoma	Unknown
c.169C>G; p.Q57E; 8:94641992-94641992	NS	NS	Substitution - Missense
c.1522T>C; p.C508R; 8:94674377-94674377	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1657_1664delTACACATT; p.Y553fs*54; 8:94678220-94678227	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Deletion - Frameshift
c.1112G>A; p.G371E; 8:94668129-94668129	skin	malignant_melanoma	Substitution - Missense
c.984C>T; p.V328V; 8:94668001-94668001	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.984C>T; p.V328V; 8:94668001-94668001	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.984C>T; p.V328V; 8:94668001-94668001	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1423C>T; p.H475Y; 8:94671642-94671642	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.991C>T; p.R331W; 8:94668008-94668008	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.878G>A; p.R293Q; 8:94665049-94665049	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.563T>G; p.I188S; 8:94662344-94662344	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.992G>A; p.R331Q; 8:94668009-94668009	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1967C>T; p.T656I; 8:94696859-94696859	skin	malignant_melanoma	Substitution - Missense
c.1456C>T; p.R486C; 8:94674311-94674311	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1351G>A; p.G451S; 8:94671570-94671570	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.147C>T; p.H49H; 8:94641970-94641970	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.230C>G; p.S77W; 8:94642053-94642053	breast	carcinoma	Substitution - Missense
c.254T>A; p.L85H; 8:94642077-94642077	soft_tissue; striated_muscle	rhabdomyosarcoma	Substitution - Missense
c.341T>C; p.V114A; 8:94643382-94643382	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.490T>C; p.Y164H; 8:94646282-94646282	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1417C>T; p.R473C; 8:94671636-94671636	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1969G>A; p.E657K; 8:94696861-94696861	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1426G>A; p.G476R; 8:94671645-94671645	skin	malignant_melanoma	Substitution - Missense
c.1969G>A; p.E657K; 8:94696861-94696861	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1173A>C; p.K391N; 8:94668190-94668190	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.495A>G; p.L165L; 8:94662276-94662276	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1528_1529delAA; p.N512fs*7; 8:94674383-94674384	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.732C>A; p.F244L; 8:94664784-94664784	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.994G>T; p.G332W; 8:94668011-94668011	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Substitution - Missense
c.1788T>C; p.N596N; 8:94678351-94678351	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1788T>C; p.N596N; 8:94678351-94678351	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1404C>T; p.F468F; 8:94671623-94671623	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1447C>T; p.H483Y; 8:94671666-94671666	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.966G>A; p.K322K; 8:94667983-94667983	skin	malignant_melanoma	Substitution - coding silent
c.887A>T; p.E296V; 8:94665058-94665058	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1348C>T; p.R450*; 8:94671567-94671567	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1357C>T; p.P453S; 8:94671576-94671576	skin	malignant_melanoma	Substitution - Missense
c.951C>T; p.A317A; 8:94667968-94667968	skin	malignant_melanoma	Substitution - coding silent
c.1700C>T; p.A567V; 8:94678263-94678263	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1690A>G; p.T564A; 8:94678253-94678253	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1152G>C; p.Q384H; 8:94668169-94668169	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1528delA; p.N512fs*2; 8:94674383-94674383	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.93C>T; p.I31I; 8:94641411-94641411	liver	carcinoma	Substitution - coding silent
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1528delA; p.N512fs*2; 8:94674383-94674383	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.93C>T; p.I31I; 8:94641411-94641411	liver	carcinoma	Substitution - coding silent
c.1528delA; p.N512fs*2; 8:94674383-94674383	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.842T>C; p.L281P; 8:94665013-94665013	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.29T>A; p.V10E; 8:94641347-94641347	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1263C>T; p.L421L; 8:94671482-94671482	skin	malignant_melanoma	Substitution - coding silent
c.1000C>T; p.P334S; 8:94668017-94668017	skin	malignant_melanoma	Substitution - Missense
c.1989A>G; p.T663T; 8:94696881-94696881	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.412G>T; p.D138Y; 8:94646204-94646204	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1733G>A; p.R578Q; 8:94678296-94678296	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense

Mutation summary in protein domains

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The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

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Loss of Function mutations compare to missense mutations

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The copy number variations for various cancers

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COSMIC somatic mutation [Top]