Entrez Gene

Basic Information
Gene ID	84632
Name	AFAP1L2

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
The somatic mutations from COSMIC database
c.1729G>T; p.G577C; 10:114300504-114300504	liver	carcinoma	Substitution - Missense
c.1729G>T; p.G577C; 10:114300504-114300504	liver	carcinoma	Substitution - Missense
c.435C>T; p.Y145Y; 10:114315737-114315737	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.645G>T; p.Q215H; 10:114314018-114314018	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1387G>A; p.D463N; 10:114302382-114302382	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.51C>T; p.F17F; 10:114340697-114340697	skin	malignant_melanoma	Substitution - coding silent
c.1605A>G; p.R535R; 10:114300628-114300628	thyroid	other; neoplasm	Substitution - coding silent
c.51C>T; p.F17F; 10:114340697-114340697	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.1837G>A; p.V613I; 10:114300314-114300314	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.37G>T; p.E13*; 10:114340711-114340711	breast	carcinoma	Substitution - Nonsense
c.2098C>T; p.L700L; 10:114299275-114299275	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1220C>T; p.P407L; 10:114304783-114304783	skin	malignant_melanoma	Substitution - Missense
c.1063G>A; p.E355K; 10:114307814-114307814	skin	malignant_melanoma	Substitution - Missense
c.1239C>G; p.Y413*; 10:114304764-114304764	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1063G>A; p.E355K; 10:114307814-114307814	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1063G>A; p.E355K; 10:114307814-114307814	skin	malignant_melanoma	Substitution - Missense
c.1063G>A; p.E355K; 10:114307814-114307814	skin	malignant_melanoma	Substitution - Missense
c.1560A>C; p.E520D; 10:114300673-114300673	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.224C>T; p.P75L; 10:114331894-114331894	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2438A>T; p.E813V; 10:114296061-114296061	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1541C>A; p.A514E; 10:114301355-114301355	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1386C>T; p.A462A; 10:114302383-114302383	bone; femur	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.567_569delACA; p.Q190delQ; 10:114315603-114315605	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - In frame
c.1925C>A; p.P642H; 10:114300226-114300226	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.903C>T; p.Y301Y; 10:114308497-114308497	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.826G>T; p.G276*; 10:114310410-114310410	breast	carcinoma	Substitution - Nonsense
c.1175C>A; p.A392D; 10:114304828-114304828	thyroid	other; neoplasm	Substitution - Missense
c.672C>T; p.S224S; 10:114313991-114313991	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1676_1677CC>TT; p.S559F; 10:114300556-114300557	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.483C>A; p.Y161*; 10:114315689-114315689	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2137G>A; p.E713K; 10:114297390-114297390	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1414G>A; p.A472T; 10:114302355-114302355	prostate	carcinoma	Substitution - Missense
c.340A>C; p.I114L; 10:114323237-114323237	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1493G>A; p.R498H; 10:114301403-114301403	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.968-5G>C; p.?; 10:114307914-114307914	liver	carcinoma	Unknown
c.968-5G>C; p.?; 10:114307914-114307914	liver	carcinoma	Unknown
c.1816C>T; p.P606S; 10:114300335-114300335	skin	malignant_melanoma	Substitution - Missense
c.2436G>A; p.W812*; 10:114296063-114296063	skin	malignant_melanoma	Substitution - Nonsense
c.593T>C; p.I198T; 10:114315579-114315579	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1981A>T; p.T661S; 10:114299392-114299392	thyroid	other; neoplasm	Substitution - Missense
c.301C>T; p.P101S; 10:114331817-114331817	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.530G>A; p.R177H; 10:114315642-114315642	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.121C>T; p.L41F; 10:114340627-114340627	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.18_19CC>TT; p.(=); 10:114340729-114340730	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.2330C>T; p.S777F; 10:114297078-114297078	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1048G>C; p.V350L; 10:114307829-114307829	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2081G>A; p.R694Q; 10:114299292-114299292	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1127G>C; p.R376T; 10:114304876-114304876	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1629C>T; p.V543V; 10:114300604-114300604	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1629C>T; p.V543V; 10:114300604-114300604	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.754G>T; p.G252C; 10:114313909-114313909	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.113C>T; p.A38V; 10:114340635-114340635	prostate	carcinoma	Substitution - Missense
c.773A>G; p.Q258R; 10:114313890-114313890	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.113C>T; p.A38V; 10:114340635-114340635	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1553C>T; p.T518I; 10:114300680-114300680	haematopoietic_and_lymphoid_tissue; abdomen	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.726G>A; p.T242T; 10:114313937-114313937	thyroid	other; neoplasm	Substitution - coding silent
c.209C>T; p.S70F; 10:114333232-114333232	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.343C>T; p.P115S; 10:114323234-114323234	skin	malignant_melanoma	Substitution - Missense
c.1850C>T; p.T617M; 10:114300301-114300301	central_nervous_system; brain	glioma	Substitution - Missense
c.343C>T; p.P115S; 10:114323234-114323234	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.737C>T; p.A246V; 10:114313926-114313926	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.320C>T; p.P107L; 10:114323257-114323257	liver	carcinoma	Substitution - Missense
c.835G>A; p.E279K; 10:114310401-114310401	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.835G>A; p.E279K; 10:114310401-114310401	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2043A>G; p.E681E; 10:114299330-114299330	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1971C>T; p.G657G; 10:114299402-114299402	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.1464T>C; p.T488T; 10:114301432-114301432	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.515T>C; p.L172P; 10:114315657-114315657	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.146-7T>C; p.?; 10:114333302-114333302	liver	carcinoma	Unknown
c.146-7T>C; p.?; 10:114333302-114333302	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.1080G>A; p.L360L; 10:114304923-114304923	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.853C>A; p.P285T; 10:114310383-114310383	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1836C>T; p.T612T; 10:114300315-114300315	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2349A>G; p.P783P; 10:114297059-114297059	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1749T>A; p.D583E; 10:114300484-114300484	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1470C>T; p.I490I; 10:114301426-114301426	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.446A>G; p.D149G; 10:114315726-114315726	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1470C>T; p.I490I; 10:114301426-114301426	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1391G>T; p.R464M; 10:114302378-114302378	pancreas	carcinoma	Substitution - Missense
c.1391G>T; p.R464M; 10:114302378-114302378	pancreas	carcinoma	Substitution - Missense
c.879G>A; p.Q293Q; 10:114310357-114310357	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2387C>T; p.S796L; 10:114297021-114297021	skin	malignant_melanoma	Substitution - Missense
c.993C>G; p.L331L; 10:114307884-114307884	thyroid	carcinoma	Substitution - coding silent
c.654G>A; p.V218V; 10:114314009-114314009	skin	malignant_melanoma	Substitution - coding silent
c.811G>A; p.G271S; 10:114310425-114310425	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2190C>T; p.R730R; 10:114297337-114297337	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2027A>G; p.E676G; 10:114299346-114299346	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2237A>G; p.K746R; 10:114297290-114297290	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1866C>G; p.I622M; 10:114300285-114300285	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.159G>C; p.E53D; 10:114333282-114333282	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.944C>A; p.P315H; 10:114308456-114308456	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.497C>T; p.P166L; 10:114315675-114315675	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1412C>T; p.A471V; 10:114302357-114302357	thyroid	carcinoma; anaplastic_carcinoma	Substitution - Missense
c.2279C>G; p.T760S; 10:114297248-114297248	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.621A>G; p.K207K; 10:114314042-114314042	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.621A>G; p.K207K; 10:114314042-114314042	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.20T>C; p.L7P; 10:114340728-114340728	oesophagus	carcinoma	Substitution - Missense
c.1251C>T; p.I417I; 10:114304752-114304752	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1471G>A; p.D491N; 10:114301425-114301425	skin	malignant_melanoma	Substitution - Missense
c.1471G>A; p.D491N; 10:114301425-114301425	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2219T>G; p.V740G; 10:114297308-114297308	pancreas	carcinoma	Substitution - Missense
c.182C>A; p.T61N; 10:114333259-114333259	skin	malignant_melanoma	Substitution - Missense
c.1241C>T; p.S414F; 10:114304762-114304762	skin	malignant_melanoma	Substitution - Missense
c.1682C>T; p.T561M; 10:114300551-114300551	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1300G>A; p.E434K; 10:114302469-114302469	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2258C>T; p.T753M; 10:114297269-114297269	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2249_2250GG>AA; p.G750E; 10:114297277-114297278	skin	malignant_melanoma	Substitution - Missense
c.2249_2250GG>AA; p.G750E; 10:114297277-114297278	skin	malignant_melanoma	Substitution - Missense
c.1485C>T; p.S495S; 10:114301411-114301411	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1711G>A; p.A571T; 10:114300522-114300522	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1058C>A; p.S353Y; 10:114307819-114307819	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1672T>C; p.S558P; 10:114300561-114300561	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.537C>T; p.C179C; 10:114315635-114315635	liver	carcinoma	Substitution - coding silent
c.537C>T; p.C179C; 10:114315635-114315635	liver	carcinoma	Substitution - coding silent
c.2188C>T; p.R730C; 10:114297339-114297339	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1757G>A; p.C586Y; 10:114300476-114300476	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1757G>A; p.C586Y; 10:114300476-114300476	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2129C>T; p.A710V; 10:114297398-114297398	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2189G>A; p.R730H; 10:114297338-114297338	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1295C>T; p.S432F; 10:114302474-114302474	skin	malignant_melanoma	Substitution - Missense
c.2189G>A; p.R730H; 10:114297338-114297338	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.337G>C; p.A113P; 10:114323240-114323240	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1377T>C; p.Y459Y; 10:114302392-114302392	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.1374C>T; p.D458D; 10:114302395-114302395	bone; extraskeletal	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.226G>A; p.E76K; 10:114331892-114331892	skin	malignant_melanoma	Substitution - Missense
c.753G>T; p.L251L; 10:114313910-114313910	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.2257A>C; p.T753P; 10:114297270-114297270	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.150T>A; p.S50S; 10:114333291-114333291	liver	carcinoma	Substitution - coding silent
c.798C>A; p.I266I; 10:114310438-114310438	kidney	other; neoplasm	Substitution - coding silent
c.1492C>T; p.R498C; 10:114301404-114301404	skin	malignant_melanoma	Substitution - Missense
c.150T>A; p.S50S; 10:114333291-114333291	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.2454T>C; p.S818S; 10:114296045-114296045	skin	malignant_melanoma	Substitution - coding silent
c.931G>T; p.V311L; 10:114308469-114308469	breast	carcinoma	Substitution - Missense
c.1885C>T; p.P629S; 10:114300266-114300266	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1568C>T; p.P523L; 10:114300665-114300665	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.699G>A; p.R233R; 10:114313964-114313964	skin	malignant_melanoma	Substitution - coding silent
c.1824G>T; p.L608L; 10:114300327-114300327	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2068C>T; p.R690W; 10:114299305-114299305	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2068C>T; p.R690W; 10:114299305-114299305	skin	malignant_melanoma	Substitution - Missense
c.1727C>G; p.S576*; 10:114300506-114300506	breast	carcinoma	Substitution - Nonsense
c.504C>T; p.A168A; 10:114315668-114315668	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent

The somatic mutations from COSMIC database