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

Basic Information

Gene ID

79728

Name

PALB2

Synonymous

FANCN|PNCA3;partner and localizer of BRCA2;PALB2;partner and localizer of BRCA2

Definition

-

Position

16p12.2

Gene Type

protein-coding

Gene Mutation:

PCGP germline mutation
PCGP somatic mutation
COSMIC somatic mutation

PCGP germline mutation   [Top]

There is no record for PALB2

PCGP somatic mutation   [Top]

There is no record for PALB2

COSMIC somatic mutation   [Top]

Mutation (CDS; AA; Chr)

Site

Histology

c.2584A>G; p.K862E;

large_intestinecarcinoma; adenocarcinoma

c.1129C>G; p.Q377E;

breastcarcinoma; HER-positive_carcinoma

c.44A>C; p.E15A; 16:23559936-23559936

breastcarcinoma; lobular_carcinoma

c.1237A>T; p.T413S;

lungcarcinoma; small_cell_carcinoma

c.44A>C; p.E15A; 16:23559936-23559936

breastcarcinoma; lobular_carcinoma

c.3296C>G; p.T1099R;

eye; uveal_tractmalignant_melanoma; epithelioid

c.1697G>A; p.R566H;

large_intestine; coloncarcinoma; adenocarcinoma

c.3022C>A; p.P1008T;

large_intestine; coloncarcinoma; adenocarcinoma

c.2659A>G; p.I887V;

large_intestine; coloncarcinoma; adenocarcinoma

c.2329G>A; p.D777N;

large_intestine; coloncarcinoma; adenocarcinoma

c.2088G>A; p.T696T;

lungcarcinoma; adenocarcinoma

c.837A>G; p.K279K;

lungcarcinoma; squamous_cell_carcinoma

c.2329G>A; p.D777N;

pancreascarcinoma; acinar_carcinoma

c.1227T>A; p.Y409*;

oesophagus; lower_thirdcarcinoma; adenocarcinoma

c.174G>A; p.L58L;

oesophaguscarcinoma; adenocarcinoma

c.1229T>G; p.V410G;

oesophaguscarcinoma; adenocarcinoma

c.375A>G; p.Q125Q;

stomachcarcinoma; adenocarcinoma

c.2891G>T; p.G964V;

large_intestine; coloncarcinoma

c.2422G>T; p.G808*;

large_intestine; coloncarcinoma

c.2471G>A; p.C824Y;

lungcarcinoma; adenocarcinoma

c.3311G>C; p.G1104A;

lungcarcinoma; adenocarcinoma

c.15C>T; p.P5P;

lungcarcinoma; adenocarcinoma

c.2616G>T; p.V872V;

lungcarcinoma; adenocarcinoma

c.2916G>T; p.L972L;

central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastoma

c.25C>T; p.L9F; 16:23559955-23559955

skinmalignant_melanoma

c.1273G>A; p.V425M;

autonomic_ganglianeuroblastoma

c.3023C>T; p.P1008L; 16:23540274-23540274

lungcarcinoma; non_small_cell_carcinoma

c.3503A>G; p.D1168G; 16:23522339-23522339

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.2946G>C; p.G982G;

breastcarcinoma; ductal_carcinoma

c.3249G>C; p.E1083D;

boneother; giant_cell_tumour

c.1510G>A; p.V504I;

prostatecarcinoma

c.1948G>A; p.E650K;

prostatecarcinoma

c.3113+2A>G; p.?;

pancreasNS

c.884A>C; p.K295T;

livercarcinoma

c.3256C>G; p.R1086G;

lungcarcinoma; small_cell_carcinoma

c.2933T>A; p.V978D;

lungcarcinoma; small_cell_carcinoma

c.1498T>C; p.S500P;

ovarycarcinoma; serous_carcinoma

c.1108C>T; p.Q370*; 16:23554260-23554260

ovarycarcinoma; serous_carcinoma

c.787G>T; p.E263*;

ovarycarcinoma; serous_carcinoma

c.1819C>G; p.L607V;

lungcarcinoma; squamous_cell_carcinoma

c.3226C>G; p.H1076D;

lungcarcinoma; squamous_cell_carcinoma

c.1456A>G; p.K486E; 16:23553912-23553912

ovarycarcinoma; serous_carcinoma

c.2338G>A; p.G780S;

lungcarcinoma; squamous_cell_carcinoma

c.3466G>C; p.D1156H;

lungcarcinoma; squamous_cell_carcinoma

c.2956G>T; p.D986Y;

lungcarcinoma; adenocarcinoma

c.1958G>T; p.C653F;

lungcarcinoma; adenocarcinoma

c.5A>G; p.D2G;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.3550C>A; p.H1184N;

lungcarcinoma; squamous_cell_carcinoma

c.2005G>A; p.E669K;

lungcarcinoma; adenocarcinoma

c.1018A>C; p.N340H;

lungcarcinoma; adenocarcinoma

c.1984A>G; p.K662E;

lungcarcinoma; adenocarcinoma

c.3096G>T; p.M1032I;

lung; right_lower_lobecarcinoma; adenocarcinoma

c.2551A>C; p.N851H;

endometriumcarcinoma; endometrioid_carcinoma

c.1109A>G; p.Q370R;

large_intestine; coloncarcinoma; adenocarcinoma

c.839delA; p.N280fs*8;

large_intestine; coloncarcinoma; adenocarcinoma

c.3017_3018insT; p.L1006fs*5;

large_intestine; coloncarcinoma; adenocarcinoma

c.1351T>G; p.L451V;

large_intestine; coloncarcinoma; adenocarcinoma

c.2059C>T; p.P687S;

large_intestine; caecumcarcinoma; adenocarcinoma

c.3503A>G; p.D1168G; 16:23522339-23522339

large_intestine; coloncarcinoma; adenocarcinoma

c.1110G>A; p.Q370Q;

large_intestine; coloncarcinoma; adenocarcinoma

c.3335C>T; p.P1112L;

large_intestine; coloncarcinoma; adenocarcinoma

c.1005T>C; p.N335N;

large_intestine; colonNS

c.3366C>T; p.D1122D;

large_intestine; coloncarcinoma; adenocarcinoma

c.2413G>T; p.V805F;

large_intestine; coloncarcinoma; adenocarcinoma

c.3026_3027insC; p.E1010fs*1;

large_intestine; caecumcarcinoma; adenocarcinoma

c.2855A>G; p.D952G;

large_intestine; coloncarcinoma; adenocarcinoma

c.2996+10G>A; p.?;

large_intestine; coloncarcinoma; adenocarcinoma

c.541G>T; p.E181*;

large_intestine; rectumcarcinoma; adenocarcinoma

c.2258G>A; p.R753Q;

large_intestine; rectumcarcinoma; adenocarcinoma

c.57G>T; p.E19D;

large_intestine; rectumcarcinoma; adenocarcinoma

c.2208C>A; p.A736A;

endometriumcarcinoma; endometrioid_carcinoma

c.3200T>C; p.M1067T;

endometriumcarcinoma; endometrioid_carcinoma

c.872C>T; p.A291V;

endometriumcarcinoma; endometrioid_carcinoma

c.1109A>G; p.Q370R;

large_intestine; caecumcarcinoma; adenocarcinoma

c.3517G>T; p.A1173S;

endometriumcarcinoma; endometrioid_carcinoma

c.768C>T; p.S256S;

endometriumcarcinoma; endometrioid_carcinoma

c.3364G>A; p.D1122N;

endometriumcarcinoma; endometrioid_carcinoma

c.2595A>T; p.S865S;

breastcarcinoma

c.3436C>T; p.Q1146*;

breastcarcinoma

c.456G>C; p.K152N;

urinary_tract; bladdercarcinoma

c.1366G>C; p.E456Q;

urinary_tract; bladdercarcinoma

c.3503A>G; p.D1168G; 16:23522339-23522339

large_intestine; coloncarcinoma; adenocarcinoma

c.3132A>G; p.Q1044Q;

large_intestine; coloncarcinoma; adenocarcinoma

c.195G>A; p.P65P;

large_intestine; coloncarcinoma; adenocarcinoma

c.2506G>A; p.V836I;

urinary_tract; bladdercarcinoma

c.1458A>G; p.K486K;

large_intestine; coloncarcinoma; adenocarcinoma

c.44A>G; p.E15G;

large_intestine; caecumcarcinoma; adenocarcinoma

c.26T>C; p.L9P;

large_intestine; coloncarcinoma; adenocarcinoma

c.1806A>G; p.Q602Q;

large_intestine; caecumcarcinoma; adenocarcinoma

c.3503A>G; p.D1168G; 16:23522339-23522339

large_intestine; coloncarcinoma; adenocarcinoma

c.1457A>G; p.K486R;

large_intestine; coloncarcinoma; adenocarcinoma

c.3503A>G; p.D1168G; 16:23522339-23522339

large_intestine; coloncarcinoma; adenocarcinoma

c.886delA; p.M296fs*1;

large_intestine; coloncarcinoma; adenocarcinoma

c.1137G>C; p.K379N;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.2639C>T; p.A880V;

endometriumcarcinoma; endometrioid_carcinoma

c.2328C>T; p.F776F;

endometriumcarcinoma; endometrioid_carcinoma

c.997A>G; p.T333A;

endometriumcarcinoma; endometrioid_carcinoma

c.1637T>C; p.V546A;

endometriumcarcinoma; endometrioid_carcinoma

c.1586C>T; p.P529L;

endometriumcarcinoma; endometrioid_carcinoma

c.1458A>G; p.K486K;

large_intestine; caecumcarcinoma; adenocarcinoma

c.3306C>T; p.S1102S;

large_intestine; coloncarcinoma; adenocarcinoma

c.1109A>G; p.Q370R;

large_intestine; caecumcarcinoma; adenocarcinoma

c.45A>G; p.E15E;

large_intestine; coloncarcinoma; adenocarcinoma

c.828C>T; p.H276H;

prostatecarcinoma

c.2679T>G; p.D893E;

skinmalignant_melanoma

c.2083A>G; p.K695E;

skin; mucosalmalignant_melanoma

c.660T>A; p.S220R;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.659G>A; p.S220N;

kidneycarcinoma; clear_cell_renal_cell_carcinoma


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