Entrez Gene

Basic Information
Gene ID	134265
Name	AFAP1L1
Synonymous	actin filament associated protein 1-like 1;AFAP1L1;actin filament associated protein 1-like 1
Definition	AFAP1-like protein 1\|actin filament-associated protein 1-like 1
Position	5q32
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.79A>G; p.S27G; 5:149299571-149299571	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.854G>A; p.R285H; 5:149310062-149310062	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.854G>A; p.R285H; 5:149310062-149310062	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1807T>C; p.S603P; 5:149322714-149322714	breast	carcinoma	Substitution - Missense
c.1513G>A; p.G505R; 5:149319615-149319615	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2053G>C; p.D685H; 5:149332772-149332772	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.327C>T; p.N109N; 5:149301230-149301230	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2290G>A; p.E764K; 5:149340013-149340013	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1505G>A; p.R502H; 5:149319607-149319607	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.853C>T; p.R285C; 5:149310061-149310061	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1255G>A; p.V419I; 5:149316291-149316291	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1715G>A; p.R572H; 5:149322622-149322622	breast	carcinoma	Substitution - Missense
c.867G>A; p.G289G; 5:149310075-149310075	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1504C>T; p.R502C; 5:149319606-149319606	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1815C>T; p.A605A; 5:149329670-149329670	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.414G>T; p.S138S; 5:149302504-149302504	liver	carcinoma	Substitution - coding silent
c.709G>A; p.A237T; 5:149307575-149307575	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.232T>A; p.C78S; 5:149301135-149301135	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.447C>A; p.S149R; 5:149306316-149306316	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2244C>T; p.I748I; 5:149335683-149335683	skin	malignant_melanoma	Substitution - coding silent
c.1860G>C; p.R620R; 5:149329715-149329715	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.685C>T; p.R229W; 5:149307551-149307551	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.685C>T; p.R229W; 5:149307551-149307551	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.988C>T; p.P330S; 5:149312172-149312172	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1856C>T; p.A619V; 5:149329711-149329711	breast	carcinoma	Substitution - Missense
c.2289G>T; p.W763C; 5:149340012-149340012	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1245C>A; p.T415T; 5:149316281-149316281	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1259C>T; p.P420L; 5:149316295-149316295	skin	malignant_melanoma	Substitution - Missense
c.1841G>A; p.R614Q; 5:149329696-149329696	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1259C>T; p.P420L; 5:149316295-149316295	skin	malignant_melanoma	Substitution - Missense
c.1993C>G; p.L665V; 5:149332712-149332712	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1803C>T; p.H601H; 5:149322710-149322710	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.112G>A; p.A38T; 5:149299604-149299604	skin	malignant_melanoma	Substitution - Missense
c.1423C>T; p.R475*; 5:149317884-149317884	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1138G>A; p.A380T; 5:149316174-149316174	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1556C>T; p.A519V; 5:149319658-149319658	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1556C>T; p.A519V; 5:149319658-149319658	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1014G>A; p.L338L; 5:149312198-149312198	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.978C>T; p.V326V; 5:149312162-149312162	skin; trunk	malignant_melanoma; nodular	Substitution - coding silent
c.1158G>A; p.M386I; 5:149316194-149316194	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.550G>C; p.A184P; 5:149307416-149307416	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1751C>T; p.S584F; 5:149322658-149322658	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1845_1846insGAG; p.E617_D618insE; 5:149329700-149329701	liver	carcinoma	Insertion - In frame
c.126_127insA; p.S43fs*32; 5:149299618-149299619	bone; tibia	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Insertion - Frameshift
c.694C>T; p.R232C; 5:149307560-149307560	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.498C>T; p.Y166Y; 5:149306367-149306367	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1236G>A; p.T412T; 5:149316272-149316272	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.833G>T; p.R278L; 5:149310041-149310041	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1664G>A; p.R555Q; 5:149320429-149320429	skin	malignant_melanoma	Substitution - Missense
c.1236G>A; p.T412T; 5:149316272-149316272	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1158G>C; p.M386I; 5:149316194-149316194	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.124C>T; p.Q42*; 5:149299616-149299616	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.980C>T; p.P327L; 5:149312164-149312164	skin	malignant_melanoma	Substitution - Missense
c.250C>T; p.R84W; 5:149301153-149301153	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.250C>T; p.R84W; 5:149301153-149301153	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.250C>T; p.R84W; 5:149301153-149301153	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2075C>T; p.A692V; 5:149332794-149332794	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1972C>T; p.P658S; 5:149329827-149329827	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1113C>T; p.H371H; 5:149315913-149315913	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.698T>C; p.F233S; 5:149307564-149307564	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1020+7C>T; p.?; 5:149312211-149312211	breast	carcinoma	Unknown
c.1020+1G>A; p.?; 5:149312205-149312205	lung	carcinoma; adenocarcinoma	Unknown
c.895C>T; p.Q299*; 5:149310103-149310103	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.662_663GC>AT; p.C221Y; 5:149307528-149307529	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.204C>T; p.F68F; 5:149300329-149300329	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.204C>T; p.F68F; 5:149300329-149300329	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2002G>T; p.A668S; 5:149332721-149332721	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1183A>G; p.T395A; 5:149316219-149316219	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1307G>A; p.R436H; 5:149317768-149317768	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.104T>A; p.M35K; 5:149299596-149299596	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.1718C>T; p.P573L; 5:149322625-149322625	skin	malignant_melanoma	Substitution - Missense
c.1556C>G; p.A519G; 5:149319658-149319658	skin	malignant_melanoma	Substitution - Missense
c.1243_1244insC; p.E416fs*52; 5:149316279-149316280	lung	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1907T>C; p.I636T; 5:149329762-149329762	kidney	other; neoplasm	Substitution - Missense
c.1907T>C; p.I636T; 5:149329762-149329762	skin	malignant_melanoma	Substitution - Missense
c.1599C>T; p.I533I; 5:149319701-149319701	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1858C>T; p.R620W; 5:149329713-149329713	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2301G>T; p.K767N; 5:149340024-149340024	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.491G>T; p.S164I; 5:149306360-149306360	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.970G>A; p.V324M; 5:149312154-149312154	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1675G>A; p.D559N; 5:149320440-149320440	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1457G>A; p.R486Q; 5:149317918-149317918	large_intestine; rectum	NS	Substitution - Missense
c.2068C>T; p.L690L; 5:149332787-149332787	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.955G>T; p.G319W; 5:149312139-149312139	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.483C>T; p.D161D; 5:149306352-149306352	oesophagus	carcinoma	Substitution - coding silent
c.1869G>T; p.L623F; 5:149329724-149329724	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1225G>T; p.D409Y; 5:149316261-149316261	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.911C>T; p.A304V; 5:149310119-149310119	skin; mucosal	malignant_melanoma	Substitution - Missense
c.510G>T; p.R170S; 5:149306379-149306379	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.458C>T; p.S153L; 5:149306327-149306327	skin	malignant_melanoma	Substitution - Missense
c.440G>T; p.G147V; 5:149306309-149306309	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.549C>T; p.D183D; 5:149307415-149307415	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1111C>A; p.H371N; 5:149315911-149315911	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.606G>A; p.P202P; 5:149307472-149307472	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2038G>A; p.E680K; 5:149332757-149332757	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1963C>T; p.R655W; 5:149329818-149329818	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.699C>T; p.F233F; 5:149307565-149307565	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.699C>T; p.F233F; 5:149307565-149307565	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.699C>T; p.F233F; 5:149307565-149307565	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1274T>C; p.L425P; 5:149317735-149317735	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.122T>G; p.L41R; 5:149299614-149299614	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.699C>T; p.F233F; 5:149307565-149307565	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.168T>G; p.Y56*; 5:149300293-149300293	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1684T>C; p.Y562H; 5:149320449-149320449	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1551G>A; p.P517P; 5:149319653-149319653	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1094G>A; p.R365H; 5:149315894-149315894	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1586C>T; p.T529I; 5:149319688-149319688	skin	malignant_melanoma	Substitution - Missense
c.1094G>A; p.R365H; 5:149315894-149315894	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.112G>C; p.A38P; 5:149299604-149299604	pancreas	NS	Substitution - Missense
c.1015G>C; p.D339H; 5:149312199-149312199	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.327+9T>C; p.?; 5:149301239-149301239	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.591G>T; p.E197D; 5:149307457-149307457	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.437A>T; p.N146I; 5:149306306-149306306	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.278C>A; p.P93H; 5:149301181-149301181	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1918C>T; p.L640L; 5:149329773-149329773	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.142C>T; p.P48S; 5:149299634-149299634	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.744C>T; p.L248L; 5:149307610-149307610	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2131G>A; p.V711M; 5:149332850-149332850	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.393_394insT; p.P132fs*9; 5:149302483-149302484	lung	carcinoma; adenocarcinoma	Insertion - Frameshift
c.22G>A; p.E8K; 5:149299514-149299514	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.695G>A; p.R232H; 5:149307561-149307561	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.695G>A; p.R232H; 5:149307561-149307561	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.695G>A; p.R232H; 5:149307561-149307561	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.68A>T; p.H23L; 5:149299560-149299560	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1179G>C; p.K393N; 5:149316215-149316215	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.847G>A; p.E283K; 5:149310055-149310055	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.145+6C>T; p.?; 5:149299643-149299643	liver	carcinoma	Unknown
c.1860G>T; p.R620R; 5:149329715-149329715	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.145+6C>T; p.?; 5:149299643-149299643	liver	carcinoma	Unknown
c.2044C>T; p.R682C; 5:149332763-149332763	skin	malignant_melanoma	Substitution - Missense
c.586G>C; p.E196Q; 5:149307452-149307452	urinary_tract; bladder	carcinoma	Substitution - Missense
c.285A>C; p.K95N; 5:149301188-149301188	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1059C>T; p.S353S; 5:149315859-149315859	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2170C>T; p.P724S; 5:149335609-149335609	skin	malignant_melanoma	Substitution - Missense
c.1185_1201del17; p.R396fs*8; 5:149316221-149316237	oesophagus; lower_third	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1976G>A; p.G659E; 5:149332695-149332695	breast	carcinoma	Substitution - Missense
c.625C>T; p.P209S; 5:149307491-149307491	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.55A>T; p.S19C; 5:149299547-149299547	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.752A>G; p.Y251C; 5:149309960-149309960	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1212G>C; p.K404N; 5:149316248-149316248	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1202C>T; p.S401F; 5:149316238-149316238	skin	malignant_melanoma	Substitution - Missense
c.70G>A; p.E24K; 5:149299562-149299562	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.70G>A; p.E24K; 5:149299562-149299562	large_intestine; colon	carcinoma	Substitution - Missense
c.333C>T; p.A111A; 5:149302423-149302423	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.70G>A; p.E24K; 5:149299562-149299562	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.994C>T; p.L332F; 5:149312178-149312178	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.840G>A; p.K280K; 5:149310048-149310048	breast	carcinoma	Substitution - coding silent
c.1804G>A; p.A602T; 5:149322711-149322711	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1637C>T; p.S546F; 5:149320402-149320402	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.715C>T; p.Q239*; 5:149307581-149307581	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.474C>T; p.Y158Y; 5:149306343-149306343	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.715C>T; p.Q239*; 5:149307581-149307581	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.133C>T; p.Q45*; 5:149299625-149299625	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1251G>A; p.E417E; 5:149316287-149316287	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.571T>A; p.S191T; 5:149307437-149307437	stomach	carcinoma; adenocarcinoma	Substitution - Missense

COSMIC somatic mutation [Top]