Entrez Gene

Basic Information
Gene ID	255738
Name	PCSK9
Synonymous	proprotein convertase subtilisin/kexin type 9;PCSK9;proprotein convertase subtilisin/kexin type 9
Definition	convertase subtilisin/kexin type 9 preproprotein\|neural apoptosis regulated convertase 1\|subtilisin/kexin-like protease PC9
Position	1p32.3
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.414C>A; p.P138P; 1:55046537-55046537	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1218C>T; p.L406L; 1:55058073-55058073	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1722C>G; p.H574Q; 1:55061415-55061415	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1644C>T; p.T548T; 1:55059626-55059626	skin	malignant_melanoma	Substitution - coding silent
c.493C>T; p.R165W; 1:55046616-55046616	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1941C>A; p.A647A; 1:55063446-55063446	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1119C>T; p.S373S; 1:55057453-55057453	central_nervous_system; brain	glioma	Substitution - coding silent
c.2038C>G; p.R680G; 1:55063543-55063543	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.616G>A; p.E206K; 1:55052370-55052370	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1207G>C; p.E403Q; 1:55058062-55058062	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1212G>T; p.P404P; 1:55058067-55058067	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.499C>G; p.R167G; 1:55046622-55046622	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.47T>C; p.L16P; 1:55039884-55039884	skin	malignant_melanoma	Substitution - Missense
c.986C>T; p.S329L; 1:55056179-55056179	urinary_tract; bladder	carcinoma	Substitution - Missense
c.805G>T; p.E269*; 1:55055998-55055998	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.978C>T; p.S326S; 1:55056171-55056171	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.484A>T; p.T162S; 1:55046607-55046607	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.504G>A; p.A168A; 1:55046627-55046627	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.504G>A; p.A168A; 1:55046627-55046627	skin	malignant_melanoma	Substitution - coding silent
c.921T>C; p.A307A; 1:55056114-55056114	stomach	adenocarcinoma	Substitution - coding silent
c.1781C>A; p.A594D; 1:55061474-55061474	stomach	adenocarcinoma	Substitution - Missense
c.961G>A; p.D321N; 1:55056154-55056154	skin	malignant_melanoma	Substitution - Missense
c.961G>A; p.D321N; 1:55056154-55056154	skin	malignant_melanoma	Substitution - Missense
c.694G>A; p.G232R; 1:55052686-55052686	skin	malignant_melanoma	Substitution - Missense
c.500G>T; p.R167L; 1:55046623-55046623	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.42_43insCTG; p.P14_L15insL; 1:55039879-55039880	endometrium	carcinoma; endometrioid_carcinoma	Insertion - In frame
c.42_43insCTG; p.P14_L15insL; 1:55039879-55039880	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.42_43insCTG; p.P14_L15insL; 1:55039879-55039880	breast	carcinoma	Insertion - In frame
c.42_43insCTG; p.P14_L15insL; 1:55039879-55039880	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.42_43insCTG; p.P14_L15insL; 1:55039879-55039880	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Insertion - In frame
c.42_43insCTG; p.P14_L15insL; 1:55039879-55039880	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.42_43insCTG; p.P14_L15insL; 1:55039879-55039880	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - In frame
c.42_43insCTG; p.P14_L15insL; 1:55039879-55039880	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.13A>G; p.S5G; 1:55039850-55039850	ovary	other; neoplasm	Substitution - Missense
c.42_43insCTG; p.P14_L15insL; 1:55039879-55039880	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.42_43insCTG; p.P14_L15insL; 1:55039879-55039880	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - In frame
c.13A>G; p.S5G; 1:55039850-55039850	ovary	other; neoplasm	Substitution - Missense
c.1745G>T; p.R582L; 1:55061438-55061438	NS	malignant_melanoma	Substitution - Missense
c.42_43insCTG; p.P14_L15insL; 1:55039879-55039880	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - In frame
c.42_43insCTG; p.P14_L15insL; 1:55039879-55039880	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - In frame
c.1314C>G; p.P438P; 1:55058169-55058169	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1154C>T; p.T385I; 1:55057488-55057488	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1716C>T; p.G572G; 1:55061409-55061409	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.43_44insCTG; p.L15>PV; 1:55039880-55039881	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Complex - insertion inframe
c.1997G>A; p.S666N; 1:55063502-55063502	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.680G>A; p.G227D; 1:55052672-55052672	skin	malignant_melanoma	Substitution - Missense
c.278G>A; p.R93H; 1:55043913-55043913	ovary	other; neoplasm	Substitution - Missense
c.780G>A; p.T260T; 1:55052772-55052772	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.583G>A; p.E195K; 1:55052337-55052337	skin	malignant_melanoma	Substitution - Missense
c.897C>T; p.A299A; 1:55056090-55056090	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1483C>T; p.R495W; 1:55058627-55058627	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1496G>A; p.R499H; 1:55058640-55058640	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.272C>T; p.S91L; 1:55043907-55043907	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1561T>C; p.Y521H; 1:55059543-55059543	liver	carcinoma	Substitution - Missense
c.1334C>T; p.P445L; 1:55058189-55058189	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1561T>C; p.Y521H; 1:55059543-55059543	liver	carcinoma	Substitution - Missense
c.615C>T; p.F205F; 1:55052369-55052369	skin	malignant_melanoma	Substitution - coding silent
c.505G>A; p.D169N; 1:55046628-55046628	skin	malignant_melanoma	Substitution - Missense
c.384C>T; p.G128G; 1:55044019-55044019	bone; tibia	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.505G>A; p.D169N; 1:55046628-55046628	skin	malignant_melanoma	Substitution - Missense
c.419T>C; p.V140A; 1:55046542-55046542	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1123T>G; p.C375G; 1:55057457-55057457	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.490C>T; p.P164S; 1:55046613-55046613	skin; nipple	malignant_melanoma	Substitution - Missense
c.1565C>T; p.A522V; 1:55059547-55059547	skin	malignant_melanoma	Substitution - Missense
c.751C>T; p.R251C; 1:55052743-55052743	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.751C>T; p.R251C; 1:55052743-55052743	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.791C>T; p.T264I; 1:55052783-55052783	bone; femur	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.899C>T; p.A300V; 1:55056092-55056092	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1206C>G; p.A402A; 1:55058061-55058061	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.710G>A; p.R237Q; 1:55052702-55052702	skin	malignant_melanoma	Substitution - Missense
c.697G>C; p.V233L; 1:55052689-55052689	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1013C>T; p.A338V; 1:55057347-55057347	pancreas	carcinoma	Substitution - Missense
c.1492G>A; p.E498K; 1:55058636-55058636	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.250G>A; p.E84K; 1:55043885-55043885	skin	malignant_melanoma	Substitution - Missense
c.158C>T; p.A53V; 1:55039995-55039995	breast	carcinoma	Substitution - Missense
c.311G>A; p.R104H; 1:55043946-55043946	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1270A>G; p.I424V; 1:55058125-55058125	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.252G>A; p.E84E; 1:55043887-55043887	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1010G>A; p.G337E; 1:55057344-55057344	ovary	carcinoma	Substitution - Missense
c.1176delG; p.A393fs*6; 1:55057510-55057510	liver	carcinoma	Deletion - Frameshift
c.314delG; p.G106fs*19; 1:55043949-55043949	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1245G>A; p.L415L; 1:55058100-55058100	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1420G>A; p.V474I; 1:55058564-55058564	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1420G>A; p.V474I; 1:55058564-55058564	thyroid	other; neoplasm	Substitution - Missense
c.1211C>T; p.P404L; 1:55058066-55058066	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1548G>A; p.G516G; 1:55059530-55059530	skin	malignant_melanoma	Substitution - coding silent
c.1211C>T; p.P404L; 1:55058066-55058066	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1427G>A; p.R476H; 1:55058571-55058571	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.755T>C; p.V252A; 1:55052747-55052747	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.755T>C; p.V252A; 1:55052747-55052747	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1432G>A; p.A478T; 1:55058576-55058576	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1380A>G; p.V460V; 1:55058524-55058524	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.1383G>C; p.W461C; 1:55058527-55058527	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1383G>C; p.W461C; 1:55058527-55058527	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1174G>A; p.V392M; 1:55057508-55057508	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1882G>A; p.E628K; 1:55063387-55063387	skin; upper_leg	malignant_melanoma	Substitution - Missense
c.468G>A; p.W156*; 1:55046591-55046591	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Nonsense
c.1864G>A; p.V622M; 1:55063369-55063369	NS	malignant_melanoma	Substitution - Missense
c.1864G>A; p.V622M; 1:55063369-55063369	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.2000C>A; p.T667N; 1:55063505-55063505	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1864G>A; p.V622M; 1:55063369-55063369	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.211C>T; p.P71S; 1:55043846-55043846	skin	malignant_melanoma	Substitution - Missense
c.287G>A; p.R96H; 1:55043922-55043922	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1859A>T; p.E620V; 1:55061552-55061552	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1202C>G; p.S401C; 1:55058057-55058057	NS	NS	Substitution - Missense
c.519_520CC>TT; p.P174S; 1:55046642-55046643	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1202C>A; p.S401Y; 1:55058057-55058057	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1047G>A; p.G349G; 1:55057381-55057381	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.863C>A; p.P288H; 1:55056056-55056056	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1701G>A; p.E567E; 1:55061394-55061394	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1701G>A; p.E567E; 1:55061394-55061394	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.467G>A; p.W156*; 1:55046590-55046590	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Nonsense
c.1849G>A; p.A617T; 1:55061542-55061542	skin	malignant_melanoma	Substitution - Missense
c.378G>C; p.M126I; 1:55044013-55044013	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.489T>C; p.P163P; 1:55046612-55046612	breast	carcinoma	Substitution - coding silent
c.463C>T; p.P155S; 1:55046586-55046586	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1590_1591insT; p.Q531fs*13; 1:55059572-55059573	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Insertion - Frameshift
c.1211C>A; p.P404Q; 1:55058066-55058066	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.430G>A; p.E144K; 1:55046553-55046553	skin	malignant_melanoma	Substitution - Missense
c.430G>A; p.E144K; 1:55046553-55046553	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1792G>A; p.A598T; 1:55061485-55061485	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1077G>A; p.V359V; 1:55057411-55057411	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.12C>A; p.V4V; 1:55039849-55039849	ovary	other; neoplasm	Substitution - coding silent
c.592_601del10; p.G198fs*66; 1:55052346-55052355	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.1205C>T; p.A402V; 1:55058060-55058060	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.12C>A; p.V4V; 1:55039849-55039849	ovary	other; neoplasm	Substitution - coding silent
c.267G>A; p.S89S; 1:55043902-55043902	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.653G>A; p.R218K; 1:55052407-55052407	liver	carcinoma	Substitution - Missense
c.955C>A; p.R319R; 1:55056148-55056148	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.653G>A; p.R218K; 1:55052407-55052407	liver	carcinoma	Substitution - Missense
c.1768_1769GG>AA; p.G590N; 1:55061461-55061462	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.348T>C; p.H116H; 1:55043983-55043983	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1364T>G; p.L455R; 1:55058508-55058508	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.271_272TC>AT; p.S91>?; 1:55043906-55043907	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Complex
c.90G>A; p.A30A; 1:55039927-55039927	prostate	carcinoma	Substitution - coding silent
c.235G>A; p.V79M; 1:55043870-55043870	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.521C>T; p.P174L; 1:55046644-55046644	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1069C>T; p.R357C; 1:55057403-55057403	central_nervous_system; brainstem	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.960C>T; p.D320D; 1:55056153-55056153	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.66C>T; p.L22L; 1:55039903-55039903	skin	malignant_melanoma	Substitution - coding silent
c.494G>T; p.R165L; 1:55046617-55046617	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.771G>A; p.G257G; 1:55052763-55052763	skin	malignant_melanoma	Substitution - coding silent
c.1405C>T; p.R469W; 1:55058549-55058549	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1405C>T; p.R469W; 1:55058549-55058549	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1890G>A; p.W630*; 1:55063395-55063395	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1890G>A; p.W630*; 1:55063395-55063395	large_intestine; colon	carcinoma	Substitution - Nonsense
c.1890G>A; p.W630*; 1:55063395-55063395	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1423G>A; p.A475T; 1:55058567-55058567	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1540G>T; p.A514S; 1:55059522-55059522	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.954C>T; p.F318F; 1:55056147-55056147	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1945G>T; p.A649S; 1:55063450-55063450	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Substitution - Missense
c.1945G>T; p.A649S; 1:55063450-55063450	soft_tissue; striated_muscle	rhabdomyosarcoma	Substitution - Missense
c.1850C>A; p.A617D; 1:55061543-55061543	central_nervous_system; medulla	primitive_neuroectodermal_tumour-medulloblastoma; classic	Substitution - Missense
c.718G>A; p.G240S; 1:55052710-55052710	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.436G>A; p.D146N; 1:55046559-55046559	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.792_793CC>TT; p.L265F; 1:55052784-55052785	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.271T>A; p.S91T; 1:55043906-55043906	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.271T>A; p.S91T; 1:55043906-55043906	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1940C>T; p.A647V; 1:55063445-55063445	skin	malignant_melanoma	Substitution - Missense
c.601A>T; p.M201L; 1:55052355-55052355	liver	carcinoma	Substitution - Missense
c.601A>T; p.M201L; 1:55052355-55052355	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.416A>G; p.H139R; 1:55046539-55046539	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense

COSMIC somatic mutation [Top]