Entrez Gene

Basic Information
Gene ID	25890
Name	ABI3BP
Synonymous	ABI family, member 3 (NESH) binding protein;ABI3BP;ABI family, member 3 (NESH) binding protein
Definition	ABI gene family member 3-binding protein\|ABI gene family, member 3 (NESH) binding protein\|nesh-binding protein\|target of Nesh-SH3
Position	3q12
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1650C>T; p.R550R; 3:100808186-100808186	skin	malignant_melanoma	Substitution - coding silent
c.2479G>A; p.E827K; 3:100770875-100770875	skin	malignant_melanoma	Substitution - Missense
c.1508C>T; p.P503L; 3:100847619-100847619	urinary_tract; bladder	carcinoma	Substitution - Missense
c.211G>T; p.G71C; 3:100926371-100926371	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.310C>T; p.R104*; 3:100902657-100902657	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.310C>T; p.R104*; 3:100902657-100902657	skin	malignant_melanoma	Substitution - Nonsense
c.1279G>C; p.E427Q; 3:100850681-100850681	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2177A>G; p.N726S; 3:100778310-100778310	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2230A>G; p.T744A; 3:100775309-100775309	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.353A>C; p.K118T; 3:100898891-100898891	skin	malignant_melanoma	Substitution - Missense
c.402G>A; p.P134P; 3:100898842-100898842	breast	carcinoma	Substitution - coding silent
c.2868T>G; p.N956K; 3:100752911-100752911	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1159G>A; p.A387T; 3:100862311-100862311	skin	malignant_melanoma	Substitution - Missense
c.784C>G; p.H262D; 3:100875562-100875562	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1237C>T; p.R413C; 3:100850723-100850723	skin	malignant_melanoma	Substitution - Missense
c.1434G>A; p.P478P; 3:100848817-100848817	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1237C>T; p.R413C; 3:100850723-100850723	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.249C>T; p.P83P; 3:100926333-100926333	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.962A>G; p.E321G; 3:100866926-100866926	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1804G>A; p.E602K; 3:100796415-100796415	skin	malignant_melanoma	Substitution - Missense
c.2340A>G; p.I780M; 3:100774666-100774666	bone; pelvis	chondrosarcoma	Substitution - Missense
c.1201C>T; p.P401S; 3:100851899-100851899	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.460C>A; p.P154T; 3:100898784-100898784	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.460C>A; p.P154T; 3:100898784-100898784	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastoma	Substitution - Missense
c.2414G>T; p.R805L; 3:100770940-100770940	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2414G>T; p.R805L; 3:100770940-100770940	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2414G>T; p.R805L; 3:100770940-100770940	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2414G>T; p.R805L; 3:100770940-100770940	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2414G>T; p.R805L; 3:100770940-100770940	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2414G>T; p.R805L; 3:100770940-100770940	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2743A>C; p.K915Q; 3:100754669-100754669	thyroid	carcinoma	Substitution - Missense
c.2522C>T; p.P841L; 3:100770832-100770832	oesophagus	carcinoma	Substitution - Missense
c.257G>A; p.G86E; 3:100926325-100926325	skin	malignant_melanoma	Substitution - Missense
c.2884G>T; p.E962*; 3:100752895-100752895	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1611G>A; p.Q537Q; 3:100808225-100808225	skin	malignant_melanoma	Substitution - coding silent
c.3031G>A; p.E1011K; 3:100751636-100751636	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.466C>T; p.H156Y; 3:100898778-100898778	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2194G>T; p.G732*; 3:100778293-100778293	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2120G>A; p.R707H; 3:100778367-100778367	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.411C>A; p.V137V; 3:100898833-100898833	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.291G>A; p.P97P; 3:100902676-100902676	skin	malignant_melanoma	Substitution - coding silent
c.917T>G; p.L306R; 3:100874855-100874855	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.256G>A; p.G86R; 3:100926326-100926326	skin	malignant_melanoma	Substitution - Missense
c.256G>A; p.G86R; 3:100926326-100926326	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2290G>A; p.D764N; 3:100775249-100775249	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1419C>T; p.R473R; 3:100848832-100848832	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1433C>T; p.P478L; 3:100848818-100848818	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.494T>A; p.I165N; 3:100886312-100886312	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2892G>A; p.K964K; 3:100752887-100752887	liver	carcinoma	Substitution - coding silent
c.2892G>A; p.K964K; 3:100752887-100752887	liver	carcinoma	Substitution - coding silent
c.2920T>A; p.Y974N; 3:100752859-100752859	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2527A>G; p.T843A; 3:100770827-100770827	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2424A>G; p.Q808Q; 3:100770930-100770930	central_nervous_system; brain	glioma	Substitution - coding silent
c.3165T>C; p.G1055G; 3:100750561-100750561	skin	malignant_melanoma	Substitution - coding silent
c.1705A>G; p.K569E; 3:100804837-100804837	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.167G>A; p.R56H; 3:100926415-100926415	prostate	carcinoma	Substitution - Missense
c.235T>G; p.Y79D; 3:100926347-100926347	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1169A>G; p.D390G; 3:100851931-100851931	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.166C>T; p.R56C; 3:100926416-100926416	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1178C>G; p.S393*; 3:100851922-100851922	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1693C>T; p.R565C; 3:100804849-100804849	central_nervous_system; brain	glioma	Substitution - Missense
c.1959G>C; p.K653N; 3:100792701-100792701	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1424G>T; p.R475L; 3:100848827-100848827	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2051G>A; p.R684K; 3:100780191-100780191	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.2208C>A; p.I736I; 3:100775331-100775331	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2909A>C; p.K970T; 3:100752870-100752870	liver	carcinoma	Substitution - Missense
c.1390A>T; p.T464S; 3:100848861-100848861	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1084G>A; p.A362T; 3:100864833-100864833	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.496C>T; p.R166C; 3:100886310-100886310	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1881G>C; p.Q627H; 3:100794933-100794933	ovary	other; neoplasm	Substitution - Missense
c.100+2C>A; p.?; 3:100993304-100993304	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1995G>A; p.V665V; 3:100789491-100789491	skin	malignant_melanoma	Substitution - coding silent
c.1238G>A; p.R413H; 3:100850722-100850722	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.347C>A; p.S116*; 3:100902620-100902620	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1238G>A; p.R413H; 3:100850722-100850722	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3167G>A; p.G1056D; 3:100750559-100750559	skin; trunk	malignant_melanoma	Substitution - Missense
c.1A>G; p.M1V; 3:100993405-100993405	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2159A>G; p.K720R; 3:100778328-100778328	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2035G>T; p.V679F; 3:100780207-100780207	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1132G>A; p.D378N; 3:100862338-100862338	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1132G>A; p.D378N; 3:100862338-100862338	breast	carcinoma	Substitution - Missense
c.1554G>C; p.L518L; 3:100846418-100846418	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1767_1768CC>TT; p.L590F; 3:100796451-100796452	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.756C>A; p.I252I; 3:100876522-100876522	breast	carcinoma	Substitution - coding silent
c.721G>T; p.A241S; 3:100876557-100876557	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2751G>A; p.P917P; 3:100754661-100754661	thyroid	other; neoplasm	Substitution - coding silent
c.2152C>T; p.R718*; 3:100778335-100778335	prostate	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1198G>T; p.E400*; 3:100851902-100851902	skin	malignant_melanoma	Substitution - Nonsense
c.2882C>G; p.S961*; 3:100752897-100752897	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3112G>T; p.E1038*; 3:100751555-100751555	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1288A>T; p.R430W; 3:100850672-100850672	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2413C>T; p.R805*; 3:100770941-100770941	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2413C>T; p.R805*; 3:100770941-100770941	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1349G>T; p.S450I; 3:100850071-100850071	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1349G>T; p.S450I; 3:100850071-100850071	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2839G>A; p.D947N; 3:100752940-100752940	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.199C>A; p.L67I; 3:100926383-100926383	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2584G>A; p.E862K; 3:100770770-100770770	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1900G>A; p.D634N; 3:100792760-100792760	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.478G>C; p.D160H; 3:100898766-100898766	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1205A>G; p.E402G; 3:100851895-100851895	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.262T>A; p.F88I; 3:100926320-100926320	skin; extremity	malignant_melanoma	Substitution - Missense
c.883C>T; p.P295S; 3:100874889-100874889	skin	malignant_melanoma	Substitution - Missense
c.551C>A; p.T184N; 3:100886255-100886255	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1399C>T; p.P467S; 3:100848852-100848852	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2522C>A; p.P841Q; 3:100770832-100770832	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2020C>T; p.H674Y; 3:100789466-100789466	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.961G>A; p.E321K; 3:100866927-100866927	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1295C>T; p.T432I; 3:100850665-100850665	breast	carcinoma	Substitution - Missense
c.1288A>G; p.R430G; 3:100850672-100850672	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2013C>A; p.D671E; 3:100789473-100789473	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.654T>A; p.T218T; 3:100886152-100886152	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.961G>A; p.E321K; 3:100866927-100866927	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1675+8T>C; p.?; 3:100808153-100808153	liver	carcinoma	Unknown
c.2279G>T; p.R760I; 3:100775260-100775260	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2638G>A; p.G880R; 3:100765923-100765923	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2979C>T; p.S993S; 3:100752800-100752800	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2979C>T; p.S993S; 3:100752800-100752800	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.313C>A; p.P105T; 3:100902654-100902654	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.929T>C; p.L310S; 3:100874843-100874843	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2116C>T; p.R706C; 3:100778371-100778371	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.542G>C; p.C181S; 3:100886264-100886264	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.72C>T; p.A24A; 3:100993334-100993334	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1559C>A; p.P520H; 3:100846413-100846413	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.71C>T; p.A24V; 3:100993335-100993335	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.822G>T; p.L274L; 3:100875524-100875524	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.331C>T; p.Q111*; 3:100902636-100902636	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Nonsense
c.2415A>G; p.R805R; 3:100770939-100770939	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1451-7C>T; p.?; 3:100847683-100847683	pancreas	carcinoma	Unknown
c.1160-4_1160-3insT; p.?; 3:100851943-100851944	central_nervous_system; brain	glioma; astrocytoma_Grade_III	Unknown
c.2830+1G>T; p.?; 3:100753818-100753818	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.1160-4_1160-3insT; p.?; 3:100851943-100851944	liver	carcinoma	Unknown
c.751A>C; p.T251P; 3:100876527-100876527	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1383G>A; p.Q461Q; 3:100848868-100848868	thyroid	carcinoma	Substitution - coding silent
c.910G>T; p.D304Y; 3:100874862-100874862	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1250C>A; p.S417Y; 3:100850710-100850710	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.602T>C; p.V201A; 3:100886204-100886204	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1673C>G; p.P558R; 3:100808163-100808163	large_intestine; colon	NS	Substitution - Missense
c.892C>A; p.L298I; 3:100874880-100874880	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.230A>G; p.N77S; 3:100926352-100926352	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1808C>T; p.P603L; 3:100796411-100796411	breast	carcinoma	Substitution - Missense
c.998G>A; p.R333Q; 3:100866890-100866890	skin	malignant_melanoma	Substitution - Missense
c.998G>A; p.R333Q; 3:100866890-100866890	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.1048A>T; p.T350S; 3:100864869-100864869	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1324C>T; p.P442S; 3:100850096-100850096	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1144C>T; p.L382L; 3:100862326-100862326	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.606A>C; p.K202N; 3:100886200-100886200	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1651C>T; p.P551S; 3:100808185-100808185	skin	malignant_melanoma	Substitution - Missense
c.206G>A; p.G69E; 3:100926376-100926376	skin	malignant_melanoma	Substitution - Missense
c.1649G>A; p.R550H; 3:100808187-100808187	central_nervous_system; brain	glioma; astrocytoma_Grade_III	Substitution - Missense
c.2227A>C; p.T743P; 3:100775312-100775312	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.577C>T; p.P193S; 3:100886229-100886229	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.609C>G; p.D203E; 3:100886197-100886197	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.734G>C; p.R245T; 3:100876544-100876544	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.249delC; p.A84fs*9; 3:100926333-100926333	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2153G>A; p.R718Q; 3:100778334-100778334	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2153G>A; p.R718Q; 3:100778334-100778334	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1246G>C; p.D416H; 3:100850714-100850714	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1050G>C; p.T350T; 3:100864867-100864867	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1655G>T; p.R552I; 3:100808181-100808181	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2500G>A; p.A834T; 3:100770854-100770854	breast	carcinoma	Substitution - Missense
c.1256C>A; p.P419Q; 3:100850704-100850704	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1927A>C; p.T643P; 3:100792733-100792733	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.336G>T; p.K112N; 3:100902631-100902631	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2854G>C; p.E952Q; 3:100752925-100752925	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1523C>A; p.P508Q; 3:100847604-100847604	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.258G>A; p.G86G; 3:100926324-100926324	skin	malignant_melanoma	Substitution - coding silent
c.726_737del12; p.Y242_K246>*; 3:100876541-100876552	breast	carcinoma	Complex - deletion inframe
c.2627C>T; p.S876F; 3:100765934-100765934	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1936C>A; p.P646T; 3:100792724-100792724	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1750G>T; p.A584S; 3:100804792-100804792	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1750G>T; p.A584S; 3:100804792-100804792	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1700C>G; p.T567S; 3:100804842-100804842	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.226C>T; p.P76S; 3:100926356-100926356	skin	malignant_melanoma	Substitution - Missense
c.1459A>G; p.T487A; 3:100847668-100847668	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1459A>G; p.T487A; 3:100847668-100847668	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; Burkitt_lymphoma	Substitution - Missense
c.175C>T; p.P59S; 3:100926407-100926407	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3124A>G; p.R1042G; 3:100750602-100750602	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2467C>T; p.R823W; 3:100770887-100770887	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1367C>T; p.T456M; 3:100850053-100850053	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1367C>T; p.T456M; 3:100850053-100850053	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.673G>T; p.V225L; 3:100885580-100885580	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.423G>A; p.W141*; 3:100898821-100898821	liver	carcinoma	Substitution - Nonsense
c.423G>A; p.W141*; 3:100898821-100898821	liver	carcinoma	Substitution - Nonsense
c.761A>G; p.K254R; 3:100876517-100876517	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2996A>C; p.K999T; 3:100751671-100751671	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.205G>A; p.G69R; 3:100926377-100926377	skin	malignant_melanoma	Substitution - Missense
c.572T>G; p.L191R; 3:100886234-100886234	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.359G>A; p.R120H; 3:100898885-100898885	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1521A>G; p.T507T; 3:100847606-100847606	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2162C>T; p.P721L; 3:100778325-100778325	skin	malignant_melanoma	Substitution - Missense
c.359G>A; p.R120H; 3:100898885-100898885	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1708C>T; p.P570S; 3:100804834-100804834	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1970C>T; p.A657V; 3:100789516-100789516	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1900G>T; p.D634Y; 3:100792760-100792760	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.511G>A; p.D171N; 3:100886295-100886295	skin	malignant_melanoma	Substitution - Missense
c.1970C>T; p.A657V; 3:100789516-100789516	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.808G>A; p.E270K; 3:100875538-100875538	skin	malignant_melanoma	Substitution - Missense
c.2517G>T; p.Q839H; 3:100770837-100770837	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1500C>A; p.S500R; 3:100847627-100847627	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2427G>A; p.K809K; 3:100770927-100770927	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.687C>A; p.I229I; 3:100885566-100885566	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2112G>A; p.G704G; 3:100778375-100778375	skin	malignant_melanoma	Substitution - coding silent
c.497G>A; p.R166H; 3:100886309-100886309	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1198G>C; p.E400Q; 3:100851902-100851902	breast	carcinoma	Substitution - Missense
c.1943C>T; p.T648I; 3:100792717-100792717	oesophagus	carcinoma	Substitution - Missense
c.543T>C; p.C181C; 3:100886263-100886263	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2828C>A; p.S943Y; 3:100753821-100753821	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1465A>G; p.S489G; 3:100847662-100847662	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2111G>T; p.G704V; 3:100778376-100778376	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.459G>A; p.L153L; 3:100898785-100898785	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1891+10G>A; p.?; 3:100794913-100794913	pancreas	carcinoma	Unknown
c.2886G>A; p.E962E; 3:100752893-100752893	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.609C>T; p.D203D; 3:100886197-100886197	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1891+10G>A; p.?; 3:100794913-100794913	pancreas	carcinoma	Unknown
c.2628C>A; p.S876S; 3:100765933-100765933	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.2266A>G; p.T756A; 3:100775273-100775273	liver	carcinoma	Substitution - Missense
c.734G>A; p.R245K; 3:100876544-100876544	skin	malignant_melanoma	Substitution - Missense
c.2341A>G; p.T781A; 3:100774665-100774665	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1285C>T; p.P429S; 3:100850675-100850675	prostate	carcinoma	Substitution - Missense
c.281A>G; p.D94G; 3:100902686-100902686	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.824G>A; p.G275E; 3:100875522-100875522	skin	malignant_melanoma	Substitution - Missense
c.1493C>T; p.S498F; 3:100847634-100847634	skin	malignant_melanoma	Substitution - Missense
c.3037C>T; p.H1013Y; 3:100751630-100751630	oesophagus	carcinoma	Substitution - Missense
c.3073A>G; p.T1025A; 3:100751594-100751594	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1378C>A; p.P460T; 3:100848873-100848873	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.482G>T; p.R161I; 3:100898762-100898762	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.482G>T; p.R161I; 3:100898762-100898762	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1166A>G; p.Y389C; 3:100851934-100851934	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2414G>A; p.R805Q; 3:100770940-100770940	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2976G>C; p.L992F; 3:100752803-100752803	breast	carcinoma	Substitution - Missense
c.3116-1G>T; p.?; 3:100750611-100750611	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.2017C>T; p.P673S; 3:100789469-100789469	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.506A>C; p.E169A; 3:100886300-100886300	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.931+10A>G; p.?; 3:100874831-100874831	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.3221G>A; p.G1074E; 3:100750505-100750505	skin	malignant_melanoma	Substitution - Missense
c.2416T>A; p.Y806N; 3:100770938-100770938	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1849A>C; p.I617L; 3:100794965-100794965	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.822G>C; p.L274L; 3:100875524-100875524	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.135C>A; p.T45T; 3:100926447-100926447	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1523C>T; p.P508L; 3:100847604-100847604	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1523C>T; p.P508L; 3:100847604-100847604	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.718-1G>A; p.?; 3:100876561-100876561	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.358C>T; p.R120C; 3:100898886-100898886	NS	malignant_melanoma	Substitution - Missense
c.1826G>A; p.R609Q; 3:100794988-100794988	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2111-1G>A; p.?; 3:100778377-100778377	lung	carcinoma; adenocarcinoma	Unknown

COSMIC somatic mutation [Top]