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Pedican
Pediatric cancer database
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

4948

Name

OCA2

Synonymous

BEY|BEY1|BEY2|BOCA|D15S12|EYCL|EYCL2|EYCL3|HCL3|P|PED|SHEP1;oculocutaneous albinism II;OCA2;oculocutaneous albinism II

Definition

P protein|eye color 2 (central brown)|eye color 3 (brown)|hair color 3 (brown)|melanocyte-specific transporter protein|oculocutaneous albinism II (pink-eye dilution homolog, mouse)|pink-eyed dilution protein homolog|total brown iris pigmentation

Position

15q

Gene Type

protein-coding

Gene Mutation:

PCGP germline mutation
PCGP somatic mutation
COSMIC somatic mutation

PCGP germline mutation   [Top]

There is no record for OCA2

PCGP somatic mutation   [Top]

There is no record for OCA2

COSMIC somatic mutation   [Top]

Mutation (CDS; AA; Chr)

Site

Histology

c.472C>G; p.L158V;

lungcarcinoma; small_cell_carcinoma

c.1327G>A; p.V443I;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.1696C>T; p.R566C;

large_intestine; coloncarcinoma; adenocarcinoma

c.1114G>A; p.D372N;

large_intestine; coloncarcinoma; adenocarcinoma

c.1839A>C; p.K613N;

large_intestine; coloncarcinoma; adenocarcinoma

c.1015G>A; p.A339T;

large_intestine; coloncarcinoma; adenocarcinoma

c.2245-2A>G; p.?;

large_intestine; coloncarcinoma; adenocarcinoma

c.2255T>C; p.L752P;

pancreascarcinoma; acinar_carcinoma

c.118C>T; p.R40W;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma

c.516-3C>G; p.?;

eye; uveal_tractmalignant_melanoma; spindle

c.240T>G; p.S80S;

oesophaguscarcinoma; adenocarcinoma

c.389G>T; p.S130I;

oesophaguscarcinoma; adenocarcinoma

c.1717C>T; p.R573C;

oesophaguscarcinoma; adenocarcinoma

c.21C>T; p.D7D;

oesophagus; lower_thirdcarcinoma; adenocarcinoma

c.2364G>A; p.S788S;

stomachcarcinoma; adenocarcinoma

c.484C>A; p.P162T;

livercarcinoma

c.1183-5C>T; p.?;

livercarcinoma

c.2317G>A; p.A773T; 15:25770144-25770144

breastcarcinoma; ductal_carcinoma

c.1364G>T; p.R455M;

livercarcinoma

c.1785A>G; p.R595R;

livercarcinoma

c.1028C>T; p.A343V;

large_intestine; coloncarcinoma

c.422G>T; p.S141I;

upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinoma

c.1785-1G>T; p.?;

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinoma

c.8T>A; p.L3Q;

large_intestine; coloncarcinoma; adenocarcinoma

c.1415T>A; p.V472E;

lungcarcinoma; adenocarcinoma

c.125C>A; p.A42D;

lungcarcinoma; adenocarcinoma

c.1993G>T; p.A665S;

lungcarcinoma; adenocarcinoma

c.1133A>T; p.H378L;

lungcarcinoma; adenocarcinoma

c.2380G>C; p.A794P;

lungcarcinoma; adenocarcinoma

c.2327C>G; p.A776G;

lungcarcinoma; adenocarcinoma

c.1593C>A; p.Y531*;

lungcarcinoma; adenocarcinoma

c.2444delC; p.P815fs*2;

lungcarcinoma; adenocarcinoma

c.2334G>T; p.L778L;

lungcarcinoma; adenocarcinoma

c.2374G>T; p.V792L;

lungcarcinoma; adenocarcinoma

c.1428C>T; p.N476N;

lungcarcinoma; adenocarcinoma

c.1324A>T; p.N442Y;

lungcarcinoma; adenocarcinoma

c.29G>A; p.R10Q;

lungcarcinoma; adenocarcinoma

c.402G>T; p.W134C;

lungcarcinoma; adenocarcinoma

c.2061G>T; p.A687A;

lungcarcinoma; adenocarcinoma

c.2383G>C; p.G795R;

lungcarcinoma; adenocarcinoma

c.1627G>T; p.E543*;

lungcarcinoma; adenocarcinoma

c.1492C>A; p.L498M;

lungcarcinoma; adenocarcinoma

c.1306C>T; p.L436F;

lungcarcinoma; adenocarcinoma

c.1015G>T; p.A339S;

lungcarcinoma; adenocarcinoma

c.1429A>T; p.I477F;

lungcarcinoma; adenocarcinoma

c.227G>A; p.R76K;

central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastoma

c.1763G>C; p.R588P;

NSmalignant_melanoma

c.1574C>T; p.P525L;

skin; trunkmalignant_melanoma

c.1075G>C; p.G359R;

ovarycarcinoma

c.2384G>T; p.G795V;

lungcarcinoma; non_small_cell_carcinoma

c.1075G>C; p.G359R;

ovarycarcinoma

c.2262C>A; p.N754K;

prostatecarcinoma

c.1222G>A; p.D408N;

pancreasNS

c.1975A>G; p.I659V;

livercarcinoma

c.169G>T; p.G57W;

lungcarcinoma; small_cell_carcinoma

c.520T>C; p.C174R;

lungcarcinoma; small_cell_carcinoma

c.1064C>T; p.A355V;

large_intestine; colonadenoma

c.1091T>C; p.L364P;

endometriumcarcinoma; serous_carcinoma

c.632C>T; p.P211L;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.898G>T; p.V300L;

lungcarcinoma; adenocarcinoma

c.119G>A; p.R40Q;

lungcarcinoma; adenocarcinoma

c.2445A>T; p.P815P;

lungcarcinoma; adenocarcinoma

c.1922C>G; p.S641W; 15:25870554-25870554

ovarycarcinoma; serous_carcinoma

c.2497G>T; p.V833L; 15:25674149-25674149

ovarycarcinoma; serous_carcinoma

c.1246C>G; p.R416G;

lungcarcinoma; squamous_cell_carcinoma

c.2245-1G>T; p.?;

lungcarcinoma; squamous_cell_carcinoma

c.2202G>T; p.L734L;

lungcarcinoma; squamous_cell_carcinoma

c.1048G>T; p.V350L;

lungcarcinoma; squamous_cell_carcinoma

c.925C>T; p.Q309*;

ovarycarcinoma; serous_carcinoma

c.837T>C; p.N279N;

ovarycarcinoma; serous_carcinoma

c.1445C>G; p.T482S; 15:25902144-25902144

ovarycarcinoma; serous_carcinoma

c.1177G>T; p.G393C;

lungcarcinoma; squamous_cell_carcinoma

c.2446A>T; p.M816L;

lungcarcinoma; squamous_cell_carcinoma

c.1888T>G; p.L630V;

lungcarcinoma; squamous_cell_carcinoma

c.1574C>T; p.P525L;

lungcarcinoma; squamous_cell_carcinoma

c.2026A>G; p.R676G;

lungcarcinoma; adenocarcinoma

c.1303G>C; p.V435L;

lungcarcinoma; adenocarcinoma

c.1647C>A; p.H549Q;

lungcarcinoma; squamous_cell_carcinoma

c.2460C>A; p.S820S;

lungcarcinoma; adenocarcinoma

c.1657G>A; p.V553I;

lungcarcinoma; squamous_cell_carcinoma

c.1594T>A; p.W532R;

lungcarcinoma; adenocarcinoma

c.1299G>T; p.A433A;

lungcarcinoma; adenocarcinoma

c.1093G>T; p.A365S;

lungcarcinoma; squamous_cell_carcinoma

c.1235T>A; p.V412E;

lungcarcinoma; squamous_cell_carcinoma

c.1200A>T; p.I400I;

lungcarcinoma; adenocarcinoma

c.174G>T; p.Q58H;

lungcarcinoma; adenocarcinoma

c.2383G>T; p.G795W;

lungcarcinoma; adenocarcinoma

c.2383G>T; p.G795W;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.2181G>C; p.L727L;

lungcarcinoma; adenocarcinoma

c.1549T>A; p.C517S;

lungcarcinoma; adenocarcinoma

c.1644G>T; p.K548N;

lungcarcinoma; adenocarcinoma

c.1054A>T; p.R352*;

lung; right_lower_lobecarcinoma; adenocarcinoma

c.1644G>A; p.K548K;

lungcarcinoma; squamous_cell_carcinoma

c.2254C>A; p.L752I;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.1516G>T; p.A506S;

lungcarcinoma; squamous_cell_carcinoma

c.363C>T; p.I121I;

lungcarcinoma; squamous_cell_carcinoma

c.1452C>T; p.I484I;

lungcarcinoma; squamous_cell_carcinoma

c.48G>T; p.A16A;

lungcarcinoma; adenocarcinoma

c.2451G>T; p.M817I;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.1900A>T; p.I634F;

lungcarcinoma; adenocarcinoma

c.1207G>C; p.E403Q;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.2415C>T; p.S805S;

lung; right_lower_lobecarcinoma; adenocarcinoma

c.1797G>A; p.Q599Q;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.735G>A; p.G245G;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.918C>A; p.A306A;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.1545G>T; p.G515G;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.2259G>T; p.L753L;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.1297G>A; p.A433T;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.1656C>T; p.H552H;

endometriumcarcinoma; endometrioid_carcinoma

c.897G>A; p.T299T;

large_intestine; caecumcarcinoma; adenocarcinoma

c.1446T>C; p.T482T;

large_intestine; coloncarcinoma; adenocarcinoma

c.1841delA; p.K614fs*14;

large_intestine; coloncarcinoma; adenocarcinoma

c.252G>A; p.M84I;

large_intestine; coloncarcinoma; adenocarcinoma

c.486G>A; p.P162P;

large_intestine; coloncarcinoma; adenocarcinoma

c.1768C>T; p.L590L;

large_intestine; coloncarcinoma; adenocarcinoma

c.2060C>T; p.A687V;

large_intestine; coloncarcinoma; adenocarcinoma

c.1932T>C; p.P644P;

large_intestine; coloncarcinoma; adenocarcinoma

c.633G>A; p.P211P;

large_intestine; coloncarcinoma; adenocarcinoma

c.2118A>G; p.E706E;

large_intestine; coloncarcinoma; adenocarcinoma

c.518G>A; p.R173H;

large_intestine; coloncarcinoma; adenocarcinoma

c.647-7C>A; p.?;

large_intestine; coloncarcinoma; adenocarcinoma

c.517C>T; p.R173C;

large_intestine; coloncarcinoma; adenocarcinoma

c.332G>A; p.R111Q;

large_intestine; coloncarcinoma; adenocarcinoma

c.45G>A; p.P15P;

large_intestine; coloncarcinoma; adenocarcinoma

c.1261C>T; p.R421W;

large_intestine; rectumcarcinoma; adenocarcinoma

c.2104G>T; p.E702*;

large_intestine; rectumcarcinoma; adenocarcinoma

c.1932T>G; p.P644P;

large_intestine; rectumcarcinoma; adenocarcinoma

c.1673C>A; p.A558D;

endometriumcarcinoma; endometrioid_carcinoma

c.344T>C; p.V115A;

endometriumcarcinoma; endometrioid_carcinoma

c.1005G>A; p.T335T;

endometriumcarcinoma; endometrioid_carcinoma

c.2422G>T; p.E808*;

endometriumcarcinoma; endometrioid_carcinoma

c.1934G>A; p.G645D;

endometriumcarcinoma; endometrioid_carcinoma

c.1391C>T; p.P464L;

endometriumcarcinoma; endometrioid_carcinoma

c.1453G>A; p.G485R;

endometriumcarcinoma; endometrioid_carcinoma

c.1349C>T; p.T450M;

large_intestine; caecumcarcinoma; adenocarcinoma

c.804G>C; p.Q268H;

endometriumcarcinoma; endometrioid_carcinoma

c.2463C>T; p.C821C;

endometriumcarcinoma; endometrioid_carcinoma

c.1922C>T; p.S641L;

endometriumcarcinoma; endometrioid_carcinoma

c.1842+2T>G; p.?;

large_intestine; caecumcarcinoma; adenocarcinoma

c.2207C>T; p.S736L;

large_intestine; caecumcarcinoma; adenocarcinoma

c.2410T>C; p.F804L;

endometriumcarcinoma; endometrioid_carcinoma

c.1118G>T; p.R373I;

endometriumcarcinoma; endometrioid_carcinoma

c.622G>A; p.A208T;

endometriumcarcinoma; endometrioid_carcinoma

c.2497G>A; p.V833M;

endometriumcarcinoma; endometrioid_carcinoma

c.1015G>A; p.A339T;

endometriumcarcinoma; endometrioid_carcinoma

c.2251G>A; p.V751M;

endometriumcarcinoma; endometrioid_carcinoma

c.150C>T; p.S50S;

endometriumcarcinoma; endometrioid_carcinoma

c.2264T>G; p.L755R;

endometriumcarcinoma; endometrioid_carcinoma

c.1539C>T; p.F513F;

urinary_tract; bladdercarcinoma

c.1575G>A; p.P525P;

large_intestine; coloncarcinoma; adenocarcinoma

c.1349C>A; p.T450K;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.2455G>A; p.V819M;

large_intestine; caecumcarcinoma; adenocarcinoma

c.971G>A; p.R324H;

large_intestine; caecumcarcinoma; adenocarcinoma

c.418C>T; p.L140L;

large_intestine; caecumcarcinoma; adenocarcinoma

c.590A>C; p.Y197S;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.1135G>A; p.V379M;

endometriumcarcinoma; endometrioid_carcinoma

c.264G>A; p.R88R;

endometriumcarcinoma; endometrioid_carcinoma

c.499C>T; p.R167C;

endometriumcarcinoma; endometrioid_carcinoma

c.1714C>T; p.R572C;

large_intestine; caecumcarcinoma; adenocarcinoma

c.292A>G; p.T98A;

large_intestine; coloncarcinoma; adenocarcinoma

c.1228T>C; p.C410R;

urinary_tract; bladdercarcinoma

c.500G>A; p.R167H;

breastcarcinoma

c.1841delA; p.K614fs*14;

large_intestine; coloncarcinoma; adenocarcinoma

c.2429delT; p.F810fs*7;

large_intestine; caecumcarcinoma; adenocarcinoma

c.236C>A; p.S79Y;

urinary_tract; bladdercarcinoma

c.47C>T; p.A16V;

large_intestine; coloncarcinoma; adenocarcinoma

c.1446T>C; p.T482T;

large_intestine; caecumcarcinoma; adenocarcinoma

c.344T>C; p.V115A;

large_intestine; caecumcarcinoma; adenocarcinoma

c.362T>C; p.I121T;

skin; scalpmalignant_melanoma

c.1012C>T; p.L338F;

skinmalignant_melanoma

c.1922C>T; p.S641L;

skinmalignant_melanoma

c.1213G>A; p.G405R;

skin; scalpcarcinoma; squamous_cell_carcinoma

c.271G>A; p.D91N;

skin; scalpcarcinoma; squamous_cell_carcinoma


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