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Gene information | Literature | Expression | lncRNA | Mutation | Homolog

Basic Information

Gene ID

81

Name

ACTN4

Synonymous

actinin, alpha 4;ACTN4;actinin, alpha 4

Definition

F-actin cross-linking protein|actinin alpha4 isoform|alpha-actinin-4|focal segmental glomerulosclerosis 1|non-muscle alpha-actinin 4

Position

19q13

Gene Type

protein-coding

COSMIC confirmed somatic mutation   [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.2708C>T; p.T903M; 19:38729404-38729404

 adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningSubstitution - Missense

c.1741G>A; p.D581N; 19:38724205-38724205

 bone; fibulaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1734G>A; p.P578P; 19:38724198-38724198

 bone; ribEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.2425G>A; p.A809T; 19:38729002-38729002

 breastcarcinomaSubstitution - Missense

c.2161G>T; p.D721Y; 19:38725874-38725874

 breastcarcinomaSubstitution - Missense

c.1093C>T; p.R365C; 19:38717266-38717266

 breastcarcinomaSubstitution - Missense

c.2274C>T; p.D758D; 19:38727040-38727040

 breastcarcinomaSubstitution - coding silent

c.979G>A; p.E327K; 19:38717152-38717152

 breastcarcinomaSubstitution - Missense

c.536C>G; p.P179R; 19:38706095-38706095

 breastcarcinomaSubstitution - Missense

c.2484delC; p.Q829fs*27; 19:38729061-38729061

 breastcarcinomaDeletion - Frameshift

c.862delA; p.N288fs*7; 19:38714511-38714511

 breastcarcinomaDeletion - Frameshift

c.2433C>T; p.F811F; 19:38729010-38729010

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.2433C>T; p.F811F; 19:38729010-38729010

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.894C>T; p.Y298Y; 19:38714543-38714543

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1394C>T; p.A465V; 19:38721640-38721640

 central_nervous_system; braingliomaSubstitution - Missense

c.2478G>A; p.V826V; 19:38729055-38729055

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1843A>G; p.T615A; 19:38724307-38724307

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1791C>T; p.I597I; 19:38724255-38724255

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.759C>T; p.D253D; 19:38710282-38710282

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1586T>C; p.L529P; 19:38723971-38723971

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1987C>T; p.P663S; 19:38724542-38724542

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1076C>T; p.T359M; 19:38717249-38717249

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.384C>A; p.S128S; 19:38701108-38701108

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.684C>T; p.F228F; 19:38709427-38709427

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.684C>T; p.F228F; 19:38709427-38709427

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.684C>T; p.F228F; 19:38709427-38709427

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1378G>A; p.E460K; 19:38721624-38721624

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.193C>T; p.R65W; 19:38700630-38700630

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.831C>T; p.A277A; 19:38714480-38714480

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1690G>A; p.E564K; 19:38724075-38724075

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1785G>A; p.Q595Q; 19:38724249-38724249

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.443C>T; p.T148I; 19:38704979-38704979

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2679C>T; p.P893P; 19:38729375-38729375

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.2011-1G>A; p.?; 19:38725723-38725723

 kidneycarcinoma; clear_cell_renal_cell_carcinomaUnknown

c.889G>A; p.D297N; 19:38714538-38714538

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1733C>T; p.P578L; 19:38724197-38724197

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.603G>C; p.L201L; 19:38708147-38708147

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.240C>T; p.D80D; 19:38700677-38700677

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1031C>T; p.P344L; 19:38717204-38717204

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.622G>A; p.E208K; 19:38708166-38708166

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.283C>T; p.R95W; 19:38701007-38701007

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.546C>T; p.N182N; 19:38706105-38706105

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1977T>C; p.N659N; 19:38724532-38724532

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.812C>T; p.A271V; 19:38710335-38710335

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.603G>A; p.L201L; 19:38708147-38708147

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2494A>G; p.I832V; 19:38729071-38729071

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.912+1G>A; p.?; 19:38714562-38714562

 large_intestine; caecumcarcinoma; adenocarcinomaUnknown

c.409G>A; p.G137S; 19:38704945-38704945

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.537G>A; p.P179P; 19:38706096-38706096

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.654C>T; p.D218D; 19:38709397-38709397

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1677C>T; p.T559T; 19:38724062-38724062

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2485C>T; p.Q829*; 19:38729062-38729062

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.2641G>A; p.A881T; 19:38729337-38729337

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1506G>A; p.W502*; 19:38723677-38723677

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1951C>T; p.R651C; 19:38724506-38724506

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1015C>T; p.R339W; 19:38717188-38717188

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1407C>T; p.R469R; 19:38721653-38721653

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2563T>C; p.L855L; 19:38729140-38729140

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2510G>A; p.R837Q; 19:38729087-38729087

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2507C>T; p.S836L; 19:38729084-38729084

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1405C>T; p.R469C; 19:38721651-38721651

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.797A>G; p.H266R; 19:38710320-38710320

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.873C>T; p.N291N; 19:38714522-38714522

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1665C>A; p.F555L; 19:38724050-38724050

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1450G>A; p.D484N; 19:38723621-38723621

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2614delC; p.D874fs*>38; 19:38729310-38729310

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1669G>A; p.V557I; 19:38724054-38724054

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1669G>A; p.V557I; 19:38724054-38724054

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2520C>T; p.T840T; 19:38729097-38729097

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1383C>T; p.S461S; 19:38721629-38721629

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.769A>G; p.I257V; 19:38710292-38710292

 livercarcinomaSubstitution - Missense

c.769A>G; p.I257V; 19:38710292-38710292

 livercarcinomaSubstitution - Missense

c.1384G>T; p.D462Y; 19:38721630-38721630

 livercarcinomaSubstitution - Missense

c.1154A>T; p.N385I; 19:38717937-38717937

 livercarcinomaSubstitution - Missense

c.1154A>T; p.N385I; 19:38717937-38717937

 livercarcinomaSubstitution - Missense

c.2708C>T; p.T903M; 19:38729404-38729404

 livercarcinomaSubstitution - Missense

c.2577+8A>G; p.?; 19:38729162-38729162

 livercarcinomaUnknown

c.2577+8A>G; p.?; 19:38729162-38729162

 livercarcinomaUnknown

c.2563T>C; p.L855L; 19:38729140-38729140

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.23A>T; p.N8I; 19:38647768-38647768

 livercarcinomaSubstitution - Missense

c.1184A>G; p.K395R; 19:38717967-38717967

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.253A>T; p.M85L; 19:38700690-38700690

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2020C>T; p.R674C; 19:38725733-38725733

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.40G>T; p.G14C; 19:38647785-38647785

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2116C>T; p.L706L; 19:38725829-38725829

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.507C>T; p.L169L; 19:38706066-38706066

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2000C>A; p.T667N; 19:38724555-38724555

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.818A>T; p.K273M; 19:38710341-38710341

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.979G>A; p.E327K; 19:38717152-38717152

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.508C>T; p.L170F; 19:38706067-38706067

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1003T>G; p.F335V; 19:38717176-38717176

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2467A>T; p.S823C; 19:38729044-38729044

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2467A>T; p.S823C; 19:38729044-38729044

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1534C>G; p.R512G; 19:38723705-38723705

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1567C>T; p.L523L; 19:38723952-38723952

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1400A>G; p.Q467R; 19:38721646-38721646

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.997G>T; p.E333*; 19:38717170-38717170

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.2054A>G; p.D685G; 19:38725767-38725767

 NSNSSubstitution - Missense

c.1940A>T; p.N647I; 19:38724495-38724495

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.2302C>T; p.Q768*; 19:38727068-38727068

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1878G>C; p.V626V; 19:38724433-38724433

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.756C>T; p.P252P; 19:38710279-38710279

 oesophaguscarcinomaSubstitution - coding silent

c.705C>T; p.L235L; 19:38709448-38709448

 oesophaguscarcinomaSubstitution - coding silent

c.2614delC; p.D874fs*>38; 19:38729310-38729310

 oesophagus; lower_thirdcarcinoma; adenocarcinomaDeletion - Frameshift

c.767C>A; p.A256D; 19:38710290-38710290

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1103A>G; p.N368S; 19:38717276-38717276

 ovaryother; neoplasmSubstitution - Missense

c.861C>A; p.V287V; 19:38714510-38714510

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.2016C>G; p.I672M; 19:38725729-38725729

 pancreascarcinomaSubstitution - Missense

c.1903C>T; p.H635Y; 19:38724458-38724458

 pancreascarcinomaSubstitution - Missense

c.1599C>T; p.Y533Y; 19:38723984-38723984

 pancreascarcinomaSubstitution - coding silent

c.2689G>A; p.D897N; 19:38729385-38729385

 pancreascarcinomaSubstitution - Missense

c.1525A>G; p.T509A; 19:38723696-38723696

 pancreascarcinomaSubstitution - Missense

c.1638C>T; p.S546S; 19:38724023-38724023

 pancreascarcinomaSubstitution - coding silent

c.1887G>A; p.L629L; 19:38724442-38724442

 pancreascarcinomaSubstitution - coding silent

c.2311C>T; p.R771W; 19:38727077-38727077

 prostatecarcinomaSubstitution - Missense

c.1442+1G>A; p.?; 19:38721689-38721689

 skinmalignant_melanomaUnknown

c.278-3C>A; p.?; 19:38700999-38700999

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.242G>A; p.G81E; 19:38700679-38700679

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2552C>A; p.S851Y; 19:38729129-38729129

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.257T>C; p.L86P; 19:38700694-38700694

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.406G>T; p.D136Y; 19:38704942-38704942

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.236G>A; p.R79Q; 19:38700673-38700673

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1771C>T; p.H591Y; 19:38724235-38724235

 skinmalignant_melanomaSubstitution - Missense

c.1719C>G; p.F573L; 19:38724183-38724183

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.941C>T; p.P314L; 19:38717114-38717114

 skinmalignant_melanomaSubstitution - Missense

c.235C>T; p.R79*; 19:38700672-38700672

 skinmalignant_melanomaSubstitution - Nonsense

c.2710G>A; p.A904T; 19:38729406-38729406

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2360C>T; p.P787L; 19:38727968-38727968

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1124C>T; p.S375F; 19:38717297-38717297

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.915C>T; p.L305L; 19:38717088-38717088

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.430G>A; p.G144R; 19:38704966-38704966

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1996C>T; p.Q666*; 19:38724551-38724551

 skinmalignant_melanomaSubstitution - Nonsense

c.2548G>A; p.A850T; 19:38729125-38729125

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1839C>T; p.T613T; 19:38724303-38724303

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.236G>A; p.R79Q; 19:38700673-38700673

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1128G>A; p.E376E; 19:38717301-38717301

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.235C>T; p.R79*; 19:38700672-38700672

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Nonsense

c.1076C>T; p.T359M; 19:38717249-38717249

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1018C>T; p.R340C; 19:38717191-38717191

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.367G>T; p.G123C; 19:38701091-38701091

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1009G>A; p.D337N; 19:38717182-38717182

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1706C>T; p.A569V; 19:38724170-38724170

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1733C>T; p.P578L; 19:38724197-38724197

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2438G>A; p.R813H; 19:38729015-38729015

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2709G>A; p.T903T; 19:38729405-38729405

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2405A>C; p.E802A; 19:38728013-38728013

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1107G>A; p.R369R; 19:38717280-38717280

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1885C>T; p.L629L; 19:38724440-38724440

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2347G>A; p.G783R; 19:38727955-38727955

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2122G>T; p.E708*; 19:38725835-38725835

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1792G>C; p.A598P; 19:38724256-38724256

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1792G>C; p.A598P; 19:38724256-38724256

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.706G>A; p.D236N; 19:38709449-38709449

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1206G>A; p.L402L; 19:38717989-38717989

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.2552C>T; p.S851F; 19:38729129-38729129

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1862C>A; p.S621Y; 19:38724326-38724326

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2681G>A; p.G894D; 19:38729377-38729377

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.387C>T; p.I129I; 19:38701111-38701111

 urinary_tract; bladdercarcinomaSubstitution - coding silent