Entrez Gene

Basic Information
Gene ID	3852
Name	KRT5
Synonymous	keratin 5, type II;KRT5;keratin 5, type II
Definition	58 kda cytokeratin\|CK-5\|cytokeratin-5\|epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types\|keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)\|keratin, type II cytoskeletal 5\|type-II keratin Kb5
Position	12q13.13
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.831_831+1GG>AA; p.?; 12:52518102-52518103	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.171G>A; p.V57V; 12:52520126-52520126	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1350G>A; p.L450L; 12:52516726-52516726	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1401C>T; p.I467I; 12:52516675-52516675	skin	malignant_melanoma	Substitution - coding silent
c.1401C>T; p.I467I; 12:52516675-52516675	skin	malignant_melanoma	Substitution - coding silent
c.1278G>T; p.K426N; 12:52516798-52516798	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.777G>A; p.E259E; 12:52518157-52518157	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.927G>A; p.A309A; 12:52517897-52517897	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1323G>A; p.K441K; 12:52516753-52516753	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.559C>T; p.R187W; 12:52519157-52519157	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1093-2A>G; p.?; 12:52517234-52517234	oesophagus	carcinoma; adenocarcinoma	Unknown
c.86G>A; p.R29H; 12:52520211-52520211	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1736C>A; p.S579Y; 12:52514979-52514979	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.588G>A; p.L196L; 12:52519128-52519128	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1423G>T; p.E475*; 12:52516653-52516653	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1153G>A; p.E385K; 12:52517172-52517172	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1153G>A; p.E385K; 12:52517172-52517172	breast	carcinoma	Substitution - Missense
c.1423G>T; p.E475*; 12:52516653-52516653	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Nonsense
c.721G>A; p.D241N; 12:52518995-52518995	skin	malignant_melanoma	Substitution - Missense
c.519G>C; p.K173N; 12:52519778-52519778	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.519G>C; p.K173N; 12:52519778-52519778	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.439C>T; p.Q147*; 12:52519858-52519858	skin	malignant_melanoma	Substitution - Nonsense
c.280G>A; p.G94S; 12:52520017-52520017	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1593C>T; p.S531S; 12:52515122-52515122	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.280G>A; p.G94S; 12:52520017-52520017	pancreas	carcinoma	Substitution - Missense
c.771-1G>A; p.?; 12:52518164-52518164	lung	carcinoma; adenocarcinoma	Unknown
c.1128C>T; p.G376G; 12:52517197-52517197	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1128C>T; p.G376G; 12:52517197-52517197	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1463C>G; p.P488R; 12:52515809-52515809	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.55A>C; p.T19P; 12:52520242-52520242	urinary_tract; bladder	carcinoma	Substitution - Missense
c.448C>T; p.L150L; 12:52519849-52519849	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.119delG; p.G40fs*111; 12:52520178-52520178	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.114C>T; p.S38S; 12:52520183-52520183	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1561G>A; p.G521S; 12:52515154-52515154	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.630T>G; p.T210T; 12:52519086-52519086	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.454C>T; p.P152S; 12:52519843-52519843	skin	malignant_melanoma	Substitution - Missense
c.1740C>T; p.T580T; 12:52514975-52514975	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1740C>T; p.T580T; 12:52514975-52514975	skin	malignant_melanoma	Substitution - coding silent
c.304G>A; p.G102S; 12:52519993-52519993	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.87C>T; p.R29R; 12:52520210-52520210	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1234A>G; p.N412D; 12:52516842-52516842	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1675C>T; p.R559*; 12:52515040-52515040	skin	malignant_melanoma	Substitution - Nonsense
c.1675C>T; p.R559*; 12:52515040-52515040	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.322G>A; p.G108S; 12:52519975-52519975	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1121G>A; p.R374Q; 12:52517204-52517204	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.322G>A; p.G108S; 12:52519975-52519975	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1675C>T; p.R559*; 12:52515040-52515040	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1363G>A; p.E455K; 12:52516713-52516713	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.1710_1711delTA; p.S571fs*>20; 12:52515004-52515005	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.667A>T; p.I223F; 12:52519049-52519049	kidney	other; neoplasm	Substitution - Missense
c.715C>T; p.R239C; 12:52519001-52519001	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1474+1G>C; p.?; 12:52515797-52515797	lung	carcinoma; adenocarcinoma	Unknown
c.1117G>A; p.G373S; 12:52517208-52517208	liver	carcinoma	Substitution - Missense
c.943C>T; p.Q315*; 12:52517739-52517739	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1275C>T; p.L425L; 12:52516801-52516801	breast	carcinoma	Substitution - coding silent
c.1720A>C; p.S574R; 12:52514995-52514995	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1720A>C; p.S574R; 12:52514995-52514995	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1720A>C; p.S574R; 12:52514995-52514995	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1348C>T; p.L450L; 12:52516728-52516728	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1720A>C; p.S574R; 12:52514995-52514995	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1720A>C; p.S574R; 12:52514995-52514995	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1720A>C; p.S574R; 12:52514995-52514995	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.695G>C; p.S232T; 12:52519021-52519021	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.311G>A; p.G104E; 12:52519986-52519986	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1502G>T; p.G501V; 12:52515213-52515213	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.495G>A; p.R165R; 12:52519802-52519802	thyroid	carcinoma	Substitution - coding silent
c.495G>T; p.R165S; 12:52519802-52519802	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.155C>T; p.A52V; 12:52520142-52520142	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.324C>T; p.G108G; 12:52519973-52519973	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1309G>A; p.E437K; 12:52516767-52516767	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1018G>T; p.A340S; 12:52517664-52517664	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.87C>A; p.R29R; 12:52520210-52520210	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1352G>A; p.R451H; 12:52516724-52516724	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1281T>C; p.D427D; 12:52516795-52516795	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1352G>A; p.R451H; 12:52516724-52516724	prostate	carcinoma	Substitution - Missense
c.7C>T; p.R3C; 12:52520290-52520290	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.871G>A; p.A291T; 12:52517953-52517953	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1428C>T; p.G476G; 12:52516648-52516648	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.325G>A; p.G109S; 12:52519972-52519972	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.454C>A; p.P152T; 12:52519843-52519843	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.507C>A; p.R169R; 12:52519790-52519790	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.954C>G; p.V318V; 12:52517728-52517728	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1725C>G; p.V575V; 12:52514990-52514990	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1546C>A; p.L516I; 12:52515169-52515169	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.472G>A; p.D158N; 12:52519825-52519825	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1570C>T; p.L524F; 12:52515145-52515145	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.549C>T; p.I183I; 12:52519748-52519748	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.58G>A; p.A20T; 12:52520239-52520239	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.346_347insT; p.G116fs*63; 12:52519950-52519951	skin; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.24C>T; p.S8S; 12:52520273-52520273	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.24C>T; p.S8S; 12:52520273-52520273	skin	malignant_melanoma	Substitution - coding silent
c.1194C>T; p.A398A; 12:52517131-52517131	pancreas	carcinoma	Substitution - coding silent
c.24C>T; p.S8S; 12:52520273-52520273	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.502G>A; p.E168K; 12:52519795-52519795	skin	malignant_melanoma	Substitution - Missense
c.1320G>A; p.Q440Q; 12:52516756-52516756	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.591C>A; p.D197E; 12:52519125-52519125	breast	carcinoma	Substitution - Missense
c.591C>A; p.D197E; 12:52519125-52519125	skin	malignant_melanoma	Substitution - Missense
c.591C>A; p.D197E; 12:52519125-52519125	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.591C>A; p.D197E; 12:52519125-52519125	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.591C>A; p.D197E; 12:52519125-52519125	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.591C>A; p.D197E; 12:52519125-52519125	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.591C>A; p.D197E; 12:52519125-52519125	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.591C>A; p.D197E; 12:52519125-52519125	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.591C>A; p.D197E; 12:52519125-52519125	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.591C>A; p.D197E; 12:52519125-52519125	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.591C>A; p.D197E; 12:52519125-52519125	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.591C>A; p.D197E; 12:52519125-52519125	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1029G>T; p.K343N; 12:52517653-52517653	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.351C>T; p.L117L; 12:52519946-52519946	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.46A>T; p.S16C; 12:52520251-52520251	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1065A>G; p.T355T; 12:52517617-52517617	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.956_957delCT; p.S319fs*1; 12:52517725-52517726	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.647A>T; p.E216V; 12:52519069-52519069	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1055G>A; p.R352H; 12:52517627-52517627	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1055G>A; p.R352H; 12:52517627-52517627	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.542C>T; p.S181F; 12:52519755-52519755	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.649C>T; p.P217S; 12:52519067-52519067	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1630G>T; p.G544C; 12:52515085-52515085	pancreas	carcinoma	Substitution - Missense
c.781G>A; p.E261K; 12:52518153-52518153	skin	malignant_melanoma	Substitution - Missense
c.689T>A; p.L230Q; 12:52519027-52519027	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.781G>A; p.E261K; 12:52518153-52518153	skin	malignant_melanoma	Substitution - Missense
c.1190G>A; p.R397K; 12:52517135-52517135	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.310G>A; p.G104R; 12:52519987-52519987	skin	malignant_melanoma	Substitution - Missense
c.498C>A; p.T166T; 12:52519799-52519799	breast	carcinoma	Substitution - coding silent
c.870G>A; p.E290E; 12:52517954-52517954	skin	malignant_melanoma	Substitution - coding silent
c.1473C>A; p.I491I; 12:52515799-52515799	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.349C>A; p.L117I; 12:52519948-52519948	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1473C>A; p.I491I; 12:52515799-52515799	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.407C>A; p.P136H; 12:52519890-52519890	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.108C>G; p.S36S; 12:52520189-52520189	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.811G>A; p.E271K; 12:52518123-52518123	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - Missense
c.445C>A; p.L149I; 12:52519852-52519852	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.445C>A; p.L149I; 12:52519852-52519852	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.197A>G; p.Y66C; 12:52520100-52520100	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1719C>T; p.S573S; 12:52514996-52514996	skin	malignant_melanoma	Substitution - coding silent
c.116G>C; p.G39A; 12:52520181-52520181	skin	malignant_melanoma	Substitution - Missense
c.1005G>T; p.L335L; 12:52517677-52517677	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.413G>A; p.G138E; 12:52519884-52519884	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1392C>T; p.D464D; 12:52516684-52516684	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.386G>A; p.G129D; 12:52519911-52519911	central_nervous_system; brain	glioma; astrocytoma_Grade_III	Substitution - Missense
c.1108C>T; p.Q370*; 12:52517217-52517217	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1627G>A; p.G543S; 12:52515088-52515088	thyroid	other; neoplasm	Substitution - Missense
c.551A>T; p.D184V; 12:52519746-52519746	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.657C>T; p.F219F; 12:52519059-52519059	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1646G>A; p.G549E; 12:52515069-52515069	skin	malignant_melanoma	Substitution - Missense
c.1245G>A; p.A415A; 12:52516831-52516831	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.1222G>A; p.A408T; 12:52516854-52516854	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1244C>T; p.A415V; 12:52516832-52516832	liver	carcinoma	Substitution - Missense
c.1244C>T; p.A415V; 12:52516832-52516832	liver	carcinoma	Substitution - Missense
c.1314C>A; p.A438A; 12:52516762-52516762	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.73C>T; p.P25S; 12:52520224-52520224	skin	malignant_melanoma	Substitution - Missense
c.269G>T; p.G90V; 12:52520028-52520028	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.397C>T; p.P133S; 12:52519900-52519900	skin	malignant_melanoma	Substitution - Missense
c.732G>C; p.L244L; 12:52518984-52518984	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1176G>A; p.M392I; 12:52517149-52517149	skin	malignant_melanoma	Substitution - Missense
c.1676G>A; p.R559Q; 12:52515039-52515039	skin	malignant_melanoma	Substitution - Missense
c.1176G>A; p.M392I; 12:52517149-52517149	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.650C>T; p.P217L; 12:52519066-52519066	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1176G>A; p.M392I; 12:52517149-52517149	skin	malignant_melanoma	Substitution - Missense
c.138C>T; p.F46F; 12:52520159-52520159	skin	malignant_melanoma	Substitution - coding silent
c.138C>T; p.F46F; 12:52520159-52520159	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.138C>T; p.F46F; 12:52520159-52520159	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1212G>T; p.K404N; 12:52517113-52517113	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.929A>G; p.E310G; 12:52517753-52517753	prostate	carcinoma	Substitution - Missense
c.1212G>T; p.K404N; 12:52517113-52517113	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.77C>T; p.S26F; 12:52520220-52520220	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.409C>T; p.P137S; 12:52519888-52519888	skin	malignant_melanoma	Substitution - Missense
c.409C>T; p.P137S; 12:52519888-52519888	skin	malignant_melanoma	Substitution - Missense
c.257G>A; p.R86Q; 12:52520040-52520040	pancreas	carcinoma	Substitution - Missense
c.721G>C; p.D241H; 12:52518995-52518995	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1060C>T; p.R354W; 12:52517622-52517622	prostate	carcinoma	Substitution - Missense
c.959A>G; p.D320G; 12:52517723-52517723	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.594C>A; p.T198T; 12:52519122-52519122	breast	carcinoma	Substitution - coding silent
c.582_583GG>AA; p.V195I; 12:52519133-52519134	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.771-6C>T; p.?; 12:52518169-52518169	skin; head_neck	malignant_melanoma; superficial_spreading	Unknown
c.1539T>G; p.G513G; 12:52515176-52515176	adrenal_gland; adrenal_gland	adrenal_cortical_adenoma; aldosterone_producing	Substitution - coding silent
c.471C>T; p.I157I; 12:52519826-52519826	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.838G>A; p.D280N; 12:52517986-52517986	skin	malignant_melanoma	Substitution - Missense
c.1683G>T; p.L561L; 12:52515032-52515032	skin	malignant_melanoma	Substitution - coding silent
c.1432G>A; p.E478K; 12:52516644-52516644	skin	malignant_melanoma	Substitution - Missense
c.484C>T; p.Q162*; 12:52519813-52519813	skin	malignant_melanoma	Substitution - Nonsense
c.415G>A; p.G139S; 12:52519882-52519882	skin	malignant_melanoma	Substitution - Missense
c.1273C>T; p.L425F; 12:52516803-52516803	skin	malignant_melanoma	Substitution - Missense
c.1341C>T; p.A447A; 12:52516735-52516735	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1400T>C; p.I467T; 12:52516676-52516676	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1006G>A; p.D336N; 12:52517676-52517676	skin	malignant_melanoma	Substitution - Missense
c.1575C>A; p.A525A; 12:52515140-52515140	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1393G>A; p.V465M; 12:52516683-52516683	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1351C>T; p.R451C; 12:52516725-52516725	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1706G>A; p.G569E; 12:52515009-52515009	skin	malignant_melanoma	Substitution - Missense
c.357C>T; p.G119G; 12:52519940-52519940	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.384T>C; p.G128G; 12:52519913-52519913	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.126T>C; p.G42G; 12:52520171-52520171	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1258C>T; p.R420C; 12:52516818-52516818	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.521_522CC>TT; p.T174I; 12:52519775-52519776	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.555_555+1GG>AA; p.?; 12:52519741-52519742	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1071C>T; p.A357A; 12:52517611-52517611	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.775G>A; p.E259K; 12:52518159-52518159	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.228C>T; p.I76I; 12:52520069-52520069	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.70A>C; p.T24P; 12:52520227-52520227	pancreas	carcinoid-endocrine_tumour	Substitution - Missense
c.1023G>A; p.E341E; 12:52517659-52517659	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1631G>A; p.G544D; 12:52515084-52515084	skin	malignant_melanoma	Substitution - Missense
c.770A>T; p.K257M; 12:52518946-52518946	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1093-7G>A; p.?; 12:52517239-52517239	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.702G>T; p.V234V; 12:52519014-52519014	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.340G>T; p.G114C; 12:52519957-52519957	liver	carcinoma	Substitution - Missense
c.1523A>G; p.Y508C; 12:52515192-52515192	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.321C>T; p.F107F; 12:52519976-52519976	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.321C>T; p.F107F; 12:52519976-52519976	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent

COSMIC somatic mutation [Top]