Entrez Gene

Basic Information
Gene ID	5563
Name	PRKAA2
Synonymous	protein kinase, AMP-activated, alpha 2 catalytic subunit;PRKAA2;protein kinase, AMP-activated, alpha 2 catalytic subunit
Definition	5'-AMP-activated protein kinase catalytic subunit alpha-2\|5'-AMP-activated protein kinase, catalytic alpha-2 chain\|ACACA kinase\|AMP-activated protein kinase alpha-2 subunit variant 2\|AMP-activated protein kinase alpha-2 subunit variant 3\|AMPK alpha 2\|AMPK
Position	1p31
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1637T>A; p.L546Q; 1:56707691-56707691	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1062T>C; p.D354D; 1:56704244-56704244	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.546T>C; p.P182P; 1:56693835-56693835	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.813T>C; p.D271D; 1:56703995-56703995	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1262G>T; p.R421L; 1:56704444-56704444	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1002G>T; p.M334I; 1:56704184-56704184	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.715C>T; p.R239C; 1:56696086-56696086	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.715C>T; p.R239C; 1:56696086-56696086	skin	malignant_melanoma	Substitution - Missense
c.715C>T; p.R239C; 1:56696086-56696086	skin	malignant_melanoma	Substitution - Missense
c.715C>T; p.R239C; 1:56696086-56696086	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1450T>C; p.S484P; 1:56707504-56707504	ovary	other; neoplasm	Substitution - Missense
c.111A>G; p.L37L; 1:56674397-56674397	thyroid	other; neoplasm	Substitution - coding silent
c.351G>A; p.R117R; 1:56692378-56692378	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.351G>A; p.R117R; 1:56692378-56692378	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.555C>T; p.I185I; 1:56693844-56693844	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.264delT; p.F90fs*3; 1:56691421-56691421	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.892G>A; p.E298K; 1:56704074-56704074	skin	malignant_melanoma	Substitution - Missense
c.264delT; p.F90fs*3; 1:56691421-56691421	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.264delT; p.F90fs*3; 1:56691421-56691421	oesophagus	carcinoma; adenocarcinoma	Deletion - Frameshift
c.264delT; p.F90fs*3; 1:56691421-56691421	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1432G>A; p.E478K; 1:56707486-56707486	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1111C>A; p.P371T; 1:56704293-56704293	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.1111C>A; p.P371T; 1:56704293-56704293	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.1326A>C; p.R442S; 1:56706124-56706124	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.1111C>A; p.P371T; 1:56704293-56704293	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.502G>A; p.E168K; 1:56693791-56693791	skin	malignant_melanoma	Substitution - Missense
c.1518T>C; p.T506T; 1:56707572-56707572	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1518T>C; p.T506T; 1:56707572-56707572	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.502G>A; p.E168K; 1:56693791-56693791	skin	malignant_melanoma	Substitution - Missense
c.246G>A; p.V82V; 1:56691403-56691403	skin	malignant_melanoma	Substitution - coding silent
c.1107G>T; p.R369S; 1:56704289-56704289	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.1397T>G; p.L466R; 1:56706195-56706195	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1315C>T; p.R439C; 1:56706113-56706113	skin	malignant_melanoma	Substitution - Missense
c.1507G>C; p.D503H; 1:56707561-56707561	breast	carcinoma	Substitution - Missense
c.522C>T; p.C174C; 1:56693811-56693811	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.237-1G>T; p.?; 1:56691393-56691393	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1353G>A; p.V451V; 1:56706151-56706151	skin	malignant_melanoma	Substitution - coding silent
c.1567A>G; p.S523G; 1:56707621-56707621	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.1567A>G; p.S523G; 1:56707621-56707621	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1567A>G; p.S523G; 1:56707621-56707621	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.1567A>G; p.S523G; 1:56707621-56707621	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.157C>T; p.R53C; 1:56674443-56674443	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1100C>T; p.P367L; 1:56704282-56704282	skin	malignant_melanoma	Substitution - Missense
c.1175_1176CC>TT; p.P392L; 1:56704357-56704358	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1130G>A; p.S377N; 1:56704312-56704312	skin	malignant_melanoma	Substitution - Missense
c.1272G>A; p.K424K; 1:56704454-56704454	liver	carcinoma	Substitution - coding silent
c.1272G>A; p.K424K; 1:56704454-56704454	liver	carcinoma	Substitution - coding silent
c.1096C>T; p.H366Y; 1:56704278-56704278	skin	malignant_melanoma	Substitution - Missense
c.1616T>G; p.F539C; 1:56707670-56707670	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.784_785delAT; p.I262fs*4; 1:56696155-56696156	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1490G>A; p.R497K; 1:56707544-56707544	skin	malignant_melanoma	Substitution - Missense
c.1494A>G; p.P498P; 1:56707548-56707548	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.124G>C; p.V42L; 1:56674410-56674410	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.494C>T; p.S165L; 1:56693783-56693783	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1249G>T; p.A417S; 1:56704431-56704431	ovary	other; neoplasm	Substitution - Missense
c.1542_1543delCT; p.L516fs*25; 1:56707596-56707597	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1597G>T; p.G533C; 1:56707651-56707651	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1556C>T; p.S519F; 1:56707610-56707610	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1556C>T; p.S519F; 1:56707610-56707610	pancreas	carcinoma	Substitution - Missense
c.1611G>A; p.M537I; 1:56707665-56707665	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1611G>A; p.M537I; 1:56707665-56707665	skin	malignant_melanoma	Substitution - Missense
c.1397T>C; p.L466P; 1:56706195-56706195	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.825C>T; p.Y275Y; 1:56704007-56704007	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.842C>A; p.P281H; 1:56704024-56704024	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1359G>A; p.M453I; 1:56706157-56706157	skin	malignant_melanoma	Substitution - Missense
c.616G>T; p.A206S; 1:56695987-56695987	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1334C>T; p.P445L; 1:56706132-56706132	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.943G>A; p.D315N; 1:56704125-56704125	skin	malignant_melanoma	Substitution - Missense
c.215G>A; p.R72H; 1:56674501-56674501	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1022A>C; p.Y341S; 1:56704204-56704204	breast	carcinoma	Substitution - Missense
c.510G>C; p.L170L; 1:56693799-56693799	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1396C>G; p.L466V; 1:56706194-56706194	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1527C>T; p.S509S; 1:56707581-56707581	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.685G>A; p.G229S; 1:56696056-56696056	skin	malignant_melanoma	Substitution - Missense
c.474C>T; p.F158F; 1:56692501-56692501	skin	malignant_melanoma	Substitution - coding silent
c.474C>T; p.F158F; 1:56692501-56692501	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.685G>A; p.G229S; 1:56696056-56696056	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.474C>T; p.F158F; 1:56692501-56692501	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.619C>T; p.L207F; 1:56695990-56695990	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.619C>T; p.L207F; 1:56695990-56695990	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1381G>A; p.D461N; 1:56706179-56706179	urinary_tract; bladder	carcinoma	Substitution - Missense
c.992G>A; p.R331Q; 1:56704174-56704174	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.950A>G; p.Q317R; 1:56704132-56704132	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.950A>G; p.Q317R; 1:56704132-56704132	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.950A>G; p.Q317R; 1:56704132-56704132	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.574G>T; p.G192C; 1:56695945-56695945	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.703G>A; p.E235K; 1:56696074-56696074	skin	malignant_melanoma	Substitution - Missense
c.1568G>A; p.S523N; 1:56707622-56707622	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.223C>T; p.H75Y; 1:56674509-56674509	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.475G>A; p.G159R; 1:56692502-56692502	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1130G>T; p.S377I; 1:56704312-56704312	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.346G>T; p.A116S; 1:56692373-56692373	oesophagus	carcinoma	Substitution - Missense
c.550G>A; p.V184I; 1:56693839-56693839	skin	malignant_melanoma	Substitution - Missense
c.1270delA; p.K424fs*9; 1:56704452-56704452	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.1373A>G; p.Y458C; 1:56706171-56706171	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.262G>T; p.D88Y; 1:56691419-56691419	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.262G>T; p.D88Y; 1:56691419-56691419	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.262G>T; p.D88Y; 1:56691419-56691419	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.95-2A>T; p.?; 1:56674379-56674379	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.1325G>A; p.R442K; 1:56706123-56706123	skin	malignant_melanoma	Substitution - Missense
c.1131C>T; p.S377S; 1:56704313-56704313	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1325G>A; p.R442K; 1:56706123-56706123	skin	malignant_melanoma	Substitution - Missense
c.1220G>A; p.R407Q; 1:56704402-56704402	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1220G>A; p.R407Q; 1:56704402-56704402	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1220G>A; p.R407Q; 1:56704402-56704402	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1220G>A; p.R407Q; 1:56704402-56704402	stomach	adenocarcinoma	Substitution - Missense
c.150G>A; p.Q50Q; 1:56674436-56674436	skin	malignant_melanoma	Substitution - coding silent
c.270T>C; p.F90F; 1:56691427-56691427	skin	malignant_melanoma	Substitution - coding silent
c.158G>A; p.R53H; 1:56674444-56674444	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.237-1G>A; p.?; 1:56691393-56691393	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.1613_1614insT; p.E541fs*1; 1:56707667-56707668	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1196A>G; p.K399R; 1:56704378-56704378	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.366G>A; p.Q122Q; 1:56692393-56692393	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1348T>C; p.Y450H; 1:56706146-56706146	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.902A>T; p.E301V; 1:56704084-56704084	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.690C>T; p.V230V; 1:56696061-56696061	skin	malignant_melanoma	Substitution - coding silent
c.476G>T; p.G159V; 1:56693765-56693765	breast	carcinoma	Substitution - Missense
c.271A>G; p.M91V; 1:56691428-56691428	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1614delT; p.F540fs*7; 1:56707668-56707668	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1614delT; p.F540fs*7; 1:56707668-56707668	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.832C>T; p.P278S; 1:56704014-56704014	skin	malignant_melanoma	Substitution - Missense
c.431A>T; p.N144I; 1:56692458-56692458	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.845C>T; p.S282F; 1:56704027-56704027	skin	malignant_melanoma	Substitution - Missense
c.1107G>A; p.R369R; 1:56704289-56704289	skin	malignant_melanoma	Substitution - coding silent
c.231C>G; p.I77M; 1:56674517-56674517	oesophagus	carcinoma	Substitution - Missense
c.188G>T; p.R63L; 1:56674474-56674474	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.871G>A; p.E291K; 1:56704053-56704053	urinary_tract; bladder	carcinoma	Substitution - Missense
c.871G>A; p.E291K; 1:56704053-56704053	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.299A>C; p.E100A; 1:56691456-56691456	kidney	other; neoplasm	Substitution - Missense
c.1063A>G; p.S355G; 1:56704245-56704245	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.134A>G; p.K45R; 1:56674420-56674420	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.617C>T; p.A206V; 1:56695988-56695988	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1544C>T; p.S515F; 1:56707598-56707598	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1501A>T; p.S501C; 1:56707555-56707555	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1445G>C; p.G482A; 1:56707499-56707499	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1293G>T; p.K431N; 1:56704475-56704475	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.853G>A; p.A285T; 1:56704035-56704035	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1081C>A; p.P361T; 1:56704263-56704263	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.901G>A; p.E301K; 1:56704083-56704083	skin	malignant_melanoma	Substitution - Missense
c.859G>A; p.V287I; 1:56704041-56704041	breast	carcinoma	Substitution - Missense
c.901G>A; p.E301K; 1:56704083-56704083	skin	malignant_melanoma	Substitution - Missense
c.859G>A; p.V287I; 1:56704041-56704041	pancreas	carcinoma	Substitution - Missense
c.1296A>G; p.V432V; 1:56706094-56706094	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.908C>T; p.T303I; 1:56704090-56704090	urinary_tract; bladder	carcinoma	Substitution - Missense
c.733_747del15; p.L245_L249delLMHML; 1:56696104-56696118	breast	carcinoma	Deletion - In frame
c.716G>A; p.R239H; 1:56696087-56696087	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.716G>A; p.R239H; 1:56696087-56696087	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1135A>T; p.K379*; 1:56704317-56704317	skin	malignant_melanoma	Substitution - Nonsense
c.366G>T; p.Q122H; 1:56692393-56692393	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.376G>A; p.A126T; 1:56692403-56692403	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.97G>T; p.G33*; 1:56674383-56674383	autonomic_ganglia	neuroblastoma	Substitution - Nonsense
c.1106G>T; p.R369M; 1:56704288-56704288	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1656T>C; p.R552R; 1:56707710-56707710	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.931T>G; p.L311V; 1:56704113-56704113	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.897A>G; p.K299K; 1:56704079-56704079	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.897A>G; p.K299K; 1:56704079-56704079	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.1050T>G; p.S350S; 1:56704232-56704232	autonomic_ganglia	neuroblastoma	Substitution - coding silent
c.1423G>A; p.E475K; 1:56707477-56707477	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1099C>A; p.P367T; 1:56704281-56704281	urinary_tract; bladder	carcinoma	Substitution - Missense
c.214C>T; p.R72C; 1:56674500-56674500	skin	malignant_melanoma	Substitution - Missense
c.1072C>T; p.H358Y; 1:56704254-56704254	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.214C>T; p.R72C; 1:56674500-56674500	skin	malignant_melanoma	Substitution - Missense
c.719C>A; p.S240Y; 1:56696090-56696090	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.214C>T; p.R72C; 1:56674500-56674500	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.290C>T; p.S97F; 1:56691447-56691447	ovary	other; neoplasm	Substitution - Missense
c.530C>T; p.P177L; 1:56693819-56693819	skin	malignant_melanoma	Substitution - Missense
c.1056G>A; p.M352I; 1:56704238-56704238	skin	malignant_melanoma	Substitution - Missense
c.767G>A; p.R256Q; 1:56696138-56696138	skin	malignant_melanoma	Substitution - Missense
c.1538C>T; p.S513F; 1:56707592-56707592	skin	malignant_melanoma	Substitution - Missense
c.350G>T; p.R117M; 1:56692377-56692377	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.767G>A; p.R256Q; 1:56696138-56696138	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1056G>A; p.M352I; 1:56704238-56704238	skin	malignant_melanoma	Substitution - Missense
c.1493C>T; p.P498L; 1:56707547-56707547	skin	malignant_melanoma	Substitution - Missense
c.1229G>A; p.S410N; 1:56704411-56704411	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1279G>A; p.D427N; 1:56704461-56704461	skin	malignant_melanoma	Substitution - Missense
c.523G>C; p.G175R; 1:56693812-56693812	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.788G>A; p.R263K; 1:56696159-56696159	skin	malignant_melanoma	Substitution - Missense
c.523G>A; p.G175R; 1:56693812-56693812	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.523G>A; p.G175R; 1:56693812-56693812	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.838G>A; p.D280N; 1:56704020-56704020	skin; mucosal	malignant_melanoma	Substitution - Missense
c.636C>T; p.L212L; 1:56696007-56696007	skin	malignant_melanoma	Substitution - coding silent
c.1516A>G; p.T506A; 1:56707570-56707570	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1516A>G; p.T506A; 1:56707570-56707570	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.429G>A; p.E143E; 1:56692456-56692456	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1516A>G; p.T506A; 1:56707570-56707570	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1234_1235CC>TT; p.P412L; 1:56704416-56704417	skin	malignant_melanoma	Substitution - Missense

COSMIC somatic mutation [Top]