Entrez Gene

Basic Information
Gene ID	10298
Name	PAK4
Synonymous	p21 protein (Cdc42/Rac)-activated kinase 4;PAK4;p21 protein (Cdc42/Rac)-activated kinase 4
Definition	PAK-4\|p21(CDKN1A)-activated kinase 4\|p21-activated kinase 4\|protein kinase related to S. cerevisiae STE20, effector for Cdc42Hs\|serine/threonine-protein kinase PAK 4
Position	19q13.2
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1447G>A; p.A483T; 19:39176677-39176677	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1447G>A; p.A483T; 19:39176677-39176677	pancreas	carcinoma	Substitution - Missense
c.1447G>A; p.A483T; 19:39176677-39176677	pancreas	carcinoma	Substitution - Missense
c.544G>A; p.G182R; 19:39173257-39173257	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1476C>G; p.Y492*; 19:39176706-39176706	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1153T>C; p.Y385H; 19:39174985-39174985	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.409C>T; p.R137W; 19:39173122-39173122	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.409C>T; p.R137W; 19:39173122-39173122	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1199G>A; p.G400E; 19:39175031-39175031	skin	malignant_melanoma	Substitution - Missense
c.404G>A; p.R135Q; 19:39173117-39173117	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.355G>C; p.E119Q; 19:39173068-39173068	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1542C>T; p.P514P; 19:39177731-39177731	skin	malignant_melanoma	Substitution - coding silent
c.88C>A; p.Q30K; 19:39169641-39169641	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1524G>A; p.M508I; 19:39177713-39177713	skin	malignant_melanoma	Substitution - Missense
c.51C>T; p.F17F; 19:39169604-39169604	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.755G>A; p.R252Q; 19:39173667-39173667	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.755G>A; p.R252Q; 19:39173667-39173667	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1505G>T; p.G502V; 19:39177694-39177694	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1387G>A; p.A463T; 19:39176617-39176617	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.795C>T; p.H265H; 19:39173707-39173707	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1625C>T; p.S542L; 19:39178428-39178428	skin	malignant_melanoma	Substitution - Missense
c.1530C>T; p.D510D; 19:39177719-39177719	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1397G>T; p.S466I; 19:39176627-39176627	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1135G>T; p.V379L; 19:39174967-39174967	pancreas	carcinoma	Substitution - Missense
c.1563C>G; p.L521L; 19:39177752-39177752	breast	carcinoma	Substitution - coding silent
c.1504G>C; p.G502R; 19:39177693-39177693	prostate	adenoma	Substitution - Missense
c.1749C>T; p.P583P; 19:39178552-39178552	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1191C>A; p.F397L; 19:39175023-39175023	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1471C>T; p.P491S; 19:39176701-39176701	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1691C>T; p.A564V; 19:39178494-39178494	skin	malignant_melanoma	Substitution - Missense
c.1771A>T; p.R591*; 19:39178574-39178574	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1638G>T; p.K546N; 19:39178441-39178441	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.204+10A>G; p.?; 19:39169767-39169767	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.248C>T; p.T83M; 19:39172961-39172961	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.415G>A; p.A139T; 19:39173128-39173128	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.287G>A; p.R96H; 19:39173000-39173000	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.775C>T; p.P259S; 19:39173687-39173687	skin	malignant_melanoma	Substitution - Missense
c.940C>A; p.P314T; 19:39173852-39173852	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.270G>T; p.E90D; 19:39172983-39172983	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1626G>A; p.S542S; 19:39178429-39178429	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1626G>A; p.S542S; 19:39178429-39178429	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.46A>C; p.N16H; 19:39169599-39169599	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1668C>T; p.D556D; 19:39178471-39178471	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.850C>T; p.P284S; 19:39173762-39173762	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.743G>A; p.R248Q; 19:39173655-39173655	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.186C>T; p.I62I; 19:39169739-39169739	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.838G>A; p.A280T; 19:39173750-39173750	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.171C>T; p.A57A; 19:39169724-39169724	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.560delC; p.Q189fs*180; 19:39173273-39173273	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.560delC; p.Q189fs*180; 19:39173273-39173273	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.560delC; p.Q189fs*180; 19:39173273-39173273	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.839C>T; p.A280V; 19:39173751-39173751	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.82C>T; p.H28Y; 19:39169635-39169635	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.817C>T; p.P273S; 19:39173729-39173729	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.739_741delTCC; p.S247delS; 19:39173651-39173653	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Deletion - In frame
c.1648G>T; p.D550Y; 19:39178451-39178451	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1666G>C; p.D556H; 19:39178469-39178469	haematopoietic_and_lymphoid_tissue; abdomen	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.35C>T; p.S12F; 19:39169588-39169588	breast	carcinoma	Substitution - Missense
c.754C>T; p.R252*; 19:39173666-39173666	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.754C>T; p.R252*; 19:39173666-39173666	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.754C>T; p.R252*; 19:39173666-39173666	large_intestine; colon	carcinoma	Substitution - Nonsense
c.754C>T; p.R252*; 19:39173666-39173666	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1766G>A; p.R589H; 19:39178569-39178569	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1411C>T; p.R471*; 19:39176641-39176641	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1537delC; p.Y515fs*10; 19:39177726-39177726	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.668A>T; p.E223V; 19:39173580-39173580	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1449C>T; p.A483A; 19:39176679-39176679	skin	malignant_melanoma	Substitution - coding silent
c.1079G>A; p.R360H; 19:39173991-39173991	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1081G>A; p.E361K; 19:39173993-39173993	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.321G>A; p.P107P; 19:39173034-39173034	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.191C>T; p.P64L; 19:39169744-39169744	skin	malignant_melanoma	Substitution - Missense
c.1245G>A; p.E415E; 19:39175324-39175324	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.759C>T; p.A253A; 19:39173671-39173671	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1068G>T; p.K356N; 19:39173980-39173980	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1485+10G>A; p.?; 19:39176725-39176725	large_intestine	carcinoma; adenocarcinoma	Unknown
c.1698G>A; p.L566L; 19:39178501-39178501	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.13A>G; p.R5G; 19:39169566-39169566	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1698G>A; p.L566L; 19:39178501-39178501	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1436C>T; p.P479L; 19:39176666-39176666	skin	malignant_melanoma	Substitution - Missense
c.164A>C; p.D55A; 19:39169717-39169717	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1750C>T; p.L584F; 19:39178553-39178553	skin	malignant_melanoma	Substitution - Missense
c.164A>C; p.D55A; 19:39169717-39169717	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.164A>C; p.D55A; 19:39169717-39169717	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.269A>G; p.E90G; 19:39172982-39172982	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1183A>C; p.M395L; 19:39175015-39175015	skin	malignant_melanoma	Substitution - Missense
c.134A>G; p.E45G; 19:39169687-39169687	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1472C>T; p.P491L; 19:39176702-39176702	skin	malignant_melanoma	Substitution - Missense
c.1528G>A; p.D510N; 19:39177717-39177717	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.723G>C; p.Q241H; 19:39173635-39173635	central_nervous_system; brain	glioma	Substitution - Missense
c.1694A>G; p.E565G; 19:39178497-39178497	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.945C>T; p.G315G; 19:39173857-39173857	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.945C>T; p.G315G; 19:39173857-39173857	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.995C>T; p.T332M; 19:39173907-39173907	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.130G>A; p.E44K; 19:39169683-39169683	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.995delC; p.T332fs*37; 19:39173907-39173907	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.193delG; p.A66fs*29; 19:39169746-39169746	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.160G>T; p.V54F; 19:39169713-39169713	skin	malignant_melanoma	Substitution - Missense
c.1663C>T; p.R555*; 19:39178466-39178466	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.168C>T; p.P56P; 19:39169721-39169721	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1473C>A; p.P491P; 19:39176703-39176703	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1730C>T; p.P577L; 19:39178533-39178533	prostate	carcinoma	Substitution - Missense
c.1730C>T; p.P577L; 19:39178533-39178533	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.99G>A; p.T33T; 19:39169652-39169652	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.96C>T; p.F32F; 19:39169649-39169649	skin	malignant_melanoma	Substitution - coding silent
c.523C>T; p.R175W; 19:39173236-39173236	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense

COSMIC somatic mutation [Top]