lung cancer gene and literature database Home

Annotation category 5

Basic annotation
Ontology and pathways
Literature evidence
Curated literatures
Expression
Gene expression chart
Somatic mutation
COSMIC and TCGA mutations
Network
Gene interaction
ceRNA
Gene-related ceRNA

Gene information

Gene ID	3838
Symbol	KPNA2
Synonymous	IPOA1\|QIP2\|RCH1\|SRP1alpha
Full name	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)
Gene description	RAG cohort 1\|RAG cohort protein 1\|SRP1-alpha\|importin alpha 1\|importin alpha 2\|importin subunit alpha-1\|importin subunit alpha-2\|importin-alpha-P1\|karyopherin subunit alpha-2\|pendulin
Cytoband	17q24.2
Gene type	protein-coding
Synonymous	MIM:600685; HGNC:HGNC:6395; Ensembl:ENSG00000182481; HPRD:02818; Vega:OTTHUMG00000179784

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.478G>C; p.D160H; 17:68042260-68042260	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.947C>T; p.A316V; 17:68043854-68043854	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1107G>C; p.Q369H; 17:68044014-68044014	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.534C>T; p.I178I; 17:68042316-68042316	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.364_365CC>TT; p.P122L; 17:68042146-68042147	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1201G>A; p.V401M; 17:68044357-68044357	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.772C>T; p.R258W; 17:68043205-68043205	skin	malignant_melanoma	Substitution - Missense
c.816C>T; p.C272C; 17:68043249-68043249	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1370C>T; p.T457I; 17:68045794-68045794	skin	malignant_melanoma	Substitution - Missense
c.1099C>T; p.Q367*; 17:68044006-68044006	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.675C>A; p.Y225*; 17:68043108-68043108	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.38G>A; p.R13H; 17:68037170-68037170	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1012G>A; p.A338T; 17:68043919-68043919	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1091C>T; p.A364V; 17:68043998-68043998	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.993G>A; p.V331V; 17:68043900-68043900	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1209C>T; p.N403N; 17:68044365-68044365	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.544G>A; p.A182T; 17:68042326-68042326	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.878G>T; p.G293V; 17:68043311-68043311	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.39T>C; p.R13R; 17:68037171-68037171	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.39T>C; p.R13R; 17:68037171-68037171	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.39T>C; p.R13R; 17:68037171-68037171	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.39T>C; p.R13R; 17:68037171-68037171	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.908G>A; p.G303E; 17:68043341-68043341	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1097G>A; p.R366H; 17:68044004-68044004	breast	carcinoma	Substitution - Missense
c.352G>T; p.A118S; 17:68042134-68042134	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1382G>A; p.S461N; 17:68045806-68045806	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.37C>A; p.R13S; 17:68037169-68037169	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.26C>T; p.T9I; 17:68037158-68037158	pancreas	carcinoma	Substitution - Missense
c.976G>T; p.E326*; 17:68043883-68043883	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.26C>T; p.T9I; 17:68037158-68037158	pancreas	carcinoma	Substitution - Missense
c.26C>T; p.T9I; 17:68037158-68037158	pancreas	carcinoma	Substitution - Missense
c.26C>T; p.T9I; 17:68037158-68037158	pancreas	carcinoma	Substitution - Missense
c.1187A>C; p.E396A; 17:68044343-68044343	skin	malignant_melanoma	Substitution - Missense
c.679C>T; p.R227C; 17:68043112-68043112	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1552C>A; p.Q518K; 17:68046558-68046558	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1158C>G; p.L386L; 17:68044065-68044065	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.505T>C; p.S169P; 17:68042287-68042287	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.349C>T; p.R117W; 17:68042131-68042131	liver	carcinoma	Substitution - Missense
c.349C>T; p.R117W; 17:68042131-68042131	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1488C>A; p.F496L; 17:68045912-68045912	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.646C>T; p.P216S; 17:68042979-68042979	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.698T>A; p.L233H; 17:68043131-68043131	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1124A>G; p.N375S; 17:68044031-68044031	breast	carcinoma	Substitution - Missense
c.189G>A; p.P63P; 17:68037471-68037471	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.189G>A; p.P63P; 17:68037471-68037471	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1574G>T; p.G525V; 17:68046580-68046580	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.199A>C; p.N67H; 17:68037481-68037481	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.203G>A; p.R68H; 17:68037485-68037485	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1068G>A; p.T356T; 17:68043975-68043975	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.235G>A; p.D79N; 17:68040699-68040699	breast	carcinoma	Substitution - Missense
c.1479G>C; p.E493D; 17:68045903-68045903	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.12C>G; p.N4K; 17:68037144-68037144	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.637C>T; p.L213F; 17:68042970-68042970	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1341C>T; p.I447I; 17:68044497-68044497	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1341C>T; p.I447I; 17:68044497-68044497	skin	malignant_melanoma	Substitution - coding silent
c.85C>T; p.R29C; 17:68037367-68037367	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.85C>T; p.R29C; 17:68037367-68037367	breast	carcinoma	Substitution - Missense
c.773G>A; p.R258Q; 17:68043206-68043206	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.265A>T; p.N89Y; 17:68040729-68040729	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.708T>G; p.L236L; 17:68043141-68043141	pancreas	carcinoid-endocrine_tumour	Substitution - coding silent
c.975T>G; p.D325E; 17:68043882-68043882	liver	carcinoma	Substitution - Missense
c.853C>T; p.R285*; 17:68043286-68043286	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.853C>T; p.R285*; 17:68043286-68043286	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.282C>T; p.L94L; 17:68040746-68040746	skin	malignant_melanoma	Substitution - coding silent
c.1535C>G; p.S512C; 17:68046541-68046541	urinary_tract; bladder	carcinoma	Substitution - Missense
c.735G>A; p.P245P; 17:68043168-68043168	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.232G>C; p.V78L; 17:68040696-68040696	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.282C>G; p.L94L; 17:68040746-68040746	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.688A>T; p.T230S; 17:68043121-68043121	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1328C>T; p.A443V; 17:68044484-68044484	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.105T>C; p.N35N; 17:68037387-68037387	skin	malignant_melanoma	Substitution - coding silent
c.364C>T; p.P122S; 17:68042146-68042146	skin	malignant_melanoma	Substitution - Missense
c.49T>A; p.F17I; 17:68037181-68037181	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.66A>G; p.K22K; 17:68037198-68037198	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.51C>T; p.F17F; 17:68037183-68037183	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.51C>T; p.F17F; 17:68037183-68037183	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.51C>T; p.F17F; 17:68037183-68037183	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.51C>T; p.F17F; 17:68037183-68037183	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.51C>T; p.F17F; 17:68037183-68037183	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.801A>G; p.V267V; 17:68043234-68043234	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.801A>G; p.V267V; 17:68043234-68043234	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.51C>T; p.F17F; 17:68037183-68037183	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.51C>T; p.F17F; 17:68037183-68037183	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.51C>T; p.F17F; 17:68037183-68037183	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.51C>T; p.F17F; 17:68037183-68037183	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.801A>G; p.V267V; 17:68043234-68043234	thyroid	other; neoplasm	Substitution - coding silent
c.51C>T; p.F17F; 17:68037183-68037183	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1408T>G; p.L470V; 17:68045832-68045832	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.886C>T; p.P296S; 17:68043319-68043319	skin	malignant_melanoma	Substitution - Missense
c.1408T>G; p.L470V; 17:68045832-68045832	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1408T>G; p.L470V; 17:68045832-68045832	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.590G>T; p.R197L; 17:68042923-68042923	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.496G>T; p.A166S; 17:68042278-68042278	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.616G>T; p.V206F; 17:68042949-68042949	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.174T>C; p.D58D; 17:68037456-68037456	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.88C>T; p.R30C; 17:68037370-68037370	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.152G>T; p.R51I; 17:68037434-68037434	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.569C>T; p.A190V; 17:68042351-68042351	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation