Entrez Gene

Basic Information
Gene ID	9848
Name	MFAP3L
Synonymous	microfibrillar-associated protein 3-like;MFAP3L;microfibrillar-associated protein 3-like
Definition	testis development protein NYD-SP9
Position	4q32.3
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.399C>T; p.T133T; 4:169992209-169992209	autonomic_ganglia	neuroblastoma	Substitution - coding silent
c.498C>T; p.V166V; 4:169992110-169992110	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.376G>C; p.V126L; 4:169992232-169992232	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.813G>A; p.V271V; 4:169991795-169991795	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.848G>T; p.R283M; 4:169991760-169991760	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1125T>C; p.P375P; 4:169991483-169991483	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.331A>G; p.N111D; 4:169992277-169992277	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.512G>A; p.R171H; 4:169992096-169992096	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.512G>A; p.R171H; 4:169992096-169992096	pancreas	carcinoma	Substitution - Missense
c.947C>G; p.A316G; 4:169991661-169991661	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.746A>G; p.N249S; 4:169991862-169991862	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.595C>A; p.Q199K; 4:169992013-169992013	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.372G>A; p.T124T; 4:169992236-169992236	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.694C>T; p.R232C; 4:169991914-169991914	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.480C>T; p.A160A; 4:169992128-169992128	thyroid	carcinoma	Substitution - coding silent
c.1192G>T; p.D398Y; 4:169991416-169991416	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1050G>A; p.A350A; 4:169991558-169991558	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1050G>A; p.A350A; 4:169991558-169991558	bone; extraskeletal	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.356A>G; p.D119G; 4:169992252-169992252	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1132G>T; p.V378L; 4:169991476-169991476	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1098C>T; p.T366T; 4:169991510-169991510	skin	malignant_melanoma	Substitution - coding silent
c.912C>T; p.D304D; 4:169991696-169991696	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.912C>T; p.D304D; 4:169991696-169991696	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.884G>A; p.R295Q; 4:169991724-169991724	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.912C>T; p.D304D; 4:169991696-169991696	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1010A>G; p.Q337R; 4:169991598-169991598	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.990A>C; p.A330A; 4:169991618-169991618	prostate	adenoma	Substitution - coding silent
c.1215C>T; p.Y405Y; 4:169991393-169991393	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.451G>A; p.V151I; 4:169992157-169992157	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1215C>T; p.Y405Y; 4:169991393-169991393	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.292G>A; p.G98R; 4:170005586-170005586	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.423C>T; p.R141R; 4:169992185-169992185	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.423C>T; p.R141R; 4:169992185-169992185	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.364A>G; p.K122E; 4:169992244-169992244	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.955G>A; p.V319M; 4:169991653-169991653	breast	carcinoma	Substitution - Missense
c.34T>A; p.F12I; 4:170005844-170005844	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1120A>T; p.T374S; 4:169991488-169991488	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.799G>T; p.G267W; 4:169991809-169991809	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.483C>T; p.F161F; 4:169992125-169992125	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.612C>T; p.I204I; 4:169991996-169991996	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.552G>T; p.K184N; 4:169992056-169992056	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.77C>T; p.A26V; 4:170005801-170005801	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.77C>T; p.A26V; 4:170005801-170005801	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.946G>T; p.A316S; 4:169991662-169991662	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.744G>A; p.M248I; 4:169991864-169991864	liver	carcinoma	Substitution - Missense
c.7C>T; p.R3*; 4:170005871-170005871	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.744G>A; p.M248I; 4:169991864-169991864	liver	carcinoma	Substitution - Missense
c.535C>A; p.L179I; 4:169992073-169992073	skin	malignant_melanoma	Substitution - Missense
c.567C>A; p.F189L; 4:169992041-169992041	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.554C>T; p.A185V; 4:169992054-169992054	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.554C>T; p.A185V; 4:169992054-169992054	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.554C>T; p.A185V; 4:169992054-169992054	large_intestine; colon	carcinoma	Substitution - Missense
c.554C>T; p.A185V; 4:169992054-169992054	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.393C>T; p.Y131Y; 4:169992215-169992215	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.422G>A; p.R141H; 4:169992186-169992186	pancreas	other; adenoma	Substitution - Missense
c.422G>A; p.R141H; 4:169992186-169992186	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.422G>A; p.R141H; 4:169992186-169992186	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.690C>T; p.F230F; 4:169991918-169991918	breast	carcinoma	Substitution - coding silent
c.774G>A; p.M258I; 4:169991834-169991834	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.712_713insT; p.A238fs*48; 4:169991895-169991896	genital_tract; extragonadal	germ_cell_tumour; mixed	Insertion - Frameshift
c.702C>T; p.I234I; 4:169991906-169991906	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.586G>C; p.E196Q; 4:169992022-169992022	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.343G>A; p.V115I; 4:169992265-169992265	stomach	adenocarcinoma	Substitution - Missense
c.1224T>A; p.H408Q; 4:169991384-169991384	breast	carcinoma	Substitution - Missense
c.703G>A; p.E235K; 4:169991905-169991905	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.153C>T; p.A51A; 4:170005725-170005725	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.703G>A; p.E235K; 4:169991905-169991905	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1060C>T; p.P354S; 4:169991548-169991548	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.879G>A; p.L293L; 4:169991729-169991729	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.879G>A; p.L293L; 4:169991729-169991729	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.298+2T>C; p.?; 4:170005578-170005578	lung	carcinoma; adenocarcinoma	Unknown
c.908C>T; p.S303L; 4:169991700-169991700	kidney	other; neoplasm	Substitution - Missense
c.351C>G; p.F117L; 4:169992257-169992257	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.226C>A; p.P76T; 4:170005652-170005652	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.121G>T; p.V41L; 4:170005757-170005757	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.79_105>TAACTAACT; p.T27_S34>*; 4:170005773-170005799	ovary	carcinoma; serous_carcinoma	Complex - deletion inframe
c.721G>A; p.V241M; 4:169991887-169991887	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1134A>G; p.V378V; 4:169991474-169991474	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1062delC; p.E355fs*14; 4:169991546-169991546	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.968C>T; p.P323L; 4:169991640-169991640	pancreas	carcinoma	Substitution - Missense
c.1072G>T; p.E358*; 4:169991536-169991536	pancreas	carcinoma	Substitution - Nonsense
c.802C>T; p.Q268*; 4:169991806-169991806	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1058C>T; p.S353F; 4:169991550-169991550	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1227C>A; p.V409V; 4:169991381-169991381	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1071A>T; p.A357A; 4:169991537-169991537	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1174G>A; p.E392K; 4:169991434-169991434	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.659C>A; p.A220D; 4:169991949-169991949	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.79_104>TAACTAAC; p.T27_S34>*; 4:170005774-170005799	ovary	carcinoma; serous_carcinoma	Complex - deletion inframe
c.199A>G; p.N67D; 4:170005679-170005679	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.359G>A; p.R120Q; 4:169992249-169992249	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.22C>T; p.L8L; 4:170005856-170005856	liver	carcinoma	Substitution - coding silent
c.695G>A; p.R232H; 4:169991913-169991913	pancreas	carcinoma	Substitution - Missense
c.695G>A; p.R232H; 4:169991913-169991913	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.695G>A; p.R232H; 4:169991913-169991913	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.695G>A; p.R232H; 4:169991913-169991913	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.909G>A; p.S303S; 4:169991699-169991699	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - coding silent
c.909G>A; p.S303S; 4:169991699-169991699	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.261G>C; p.L87L; 4:170005617-170005617	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.893C>T; p.S298F; 4:169991715-169991715	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.286G>A; p.E96K; 4:170005592-170005592	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.885G>T; p.R295R; 4:169991723-169991723	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.357C>A; p.D119E; 4:169992251-169992251	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1138G>A; p.D380N; 4:169991470-169991470	breast	carcinoma	Substitution - Missense
c.885G>T; p.R295R; 4:169991723-169991723	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.357C>A; p.D119E; 4:169992251-169992251	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1077T>G; p.P359P; 4:169991531-169991531	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.634A>T; p.T212S; 4:169991974-169991974	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.613G>A; p.A205T; 4:169991995-169991995	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.613G>A; p.A205T; 4:169991995-169991995	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1151C>T; p.P384L; 4:169991457-169991457	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.720C>T; p.S240S; 4:169991888-169991888	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.617A>T; p.K206M; 4:169991991-169991991	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense

COSMIC somatic mutation [Top]