| 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_intestine | carcinoma; adenocarcinoma |
c.1129C>G; p.Q377E; |
breast | carcinoma; HER-positive_carcinoma |
c.44A>C; p.E15A; 16:23559936-23559936 |
breast | carcinoma; lobular_carcinoma |
c.1237A>T; p.T413S; |
lung | carcinoma; small_cell_carcinoma |
c.44A>C; p.E15A; 16:23559936-23559936 |
breast | carcinoma; lobular_carcinoma |
c.3296C>G; p.T1099R; |
eye; uveal_tract | malignant_melanoma; epithelioid |
c.1697G>A; p.R566H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3022C>A; p.P1008T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2659A>G; p.I887V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2329G>A; p.D777N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2088G>A; p.T696T; |
lung | carcinoma; adenocarcinoma |
c.837A>G; p.K279K; |
lung | carcinoma; squamous_cell_carcinoma |
c.2329G>A; p.D777N; |
pancreas | carcinoma; acinar_carcinoma |
c.1227T>A; p.Y409*; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.174G>A; p.L58L; |
oesophagus | carcinoma; adenocarcinoma |
c.1229T>G; p.V410G; |
oesophagus | carcinoma; adenocarcinoma |
c.375A>G; p.Q125Q; |
stomach | carcinoma; adenocarcinoma |
c.2891G>T; p.G964V; |
large_intestine; colon | carcinoma |
c.2422G>T; p.G808*; |
large_intestine; colon | carcinoma |
c.2471G>A; p.C824Y; |
lung | carcinoma; adenocarcinoma |
c.3311G>C; p.G1104A; |
lung | carcinoma; adenocarcinoma |
c.15C>T; p.P5P; |
lung | carcinoma; adenocarcinoma |
c.2616G>T; p.V872V; |
lung | carcinoma; adenocarcinoma |
c.2916G>T; p.L972L; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.25C>T; p.L9F; 16:23559955-23559955 |
skin | malignant_melanoma |
c.1273G>A; p.V425M; |
autonomic_ganglia | neuroblastoma |
c.3023C>T; p.P1008L; 16:23540274-23540274 |
lung | carcinoma; non_small_cell_carcinoma |
c.3503A>G; p.D1168G; 16:23522339-23522339 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2946G>C; p.G982G; |
breast | carcinoma; ductal_carcinoma |
c.3249G>C; p.E1083D; |
bone | other; giant_cell_tumour |
c.1510G>A; p.V504I; |
prostate | carcinoma |
c.1948G>A; p.E650K; |
prostate | carcinoma |
c.3113+2A>G; p.?; |
pancreas | NS |
c.884A>C; p.K295T; |
liver | carcinoma |
c.3256C>G; p.R1086G; |
lung | carcinoma; small_cell_carcinoma |
c.2933T>A; p.V978D; |
lung | carcinoma; small_cell_carcinoma |
c.1498T>C; p.S500P; |
ovary | carcinoma; serous_carcinoma |
c.1108C>T; p.Q370*; 16:23554260-23554260 |
ovary | carcinoma; serous_carcinoma |
c.787G>T; p.E263*; |
ovary | carcinoma; serous_carcinoma |
c.1819C>G; p.L607V; |
lung | carcinoma; squamous_cell_carcinoma |
c.3226C>G; p.H1076D; |
lung | carcinoma; squamous_cell_carcinoma |
c.1456A>G; p.K486E; 16:23553912-23553912 |
ovary | carcinoma; serous_carcinoma |
c.2338G>A; p.G780S; |
lung | carcinoma; squamous_cell_carcinoma |
c.3466G>C; p.D1156H; |
lung | carcinoma; squamous_cell_carcinoma |
c.2956G>T; p.D986Y; |
lung | carcinoma; adenocarcinoma |
c.1958G>T; p.C653F; |
lung | carcinoma; adenocarcinoma |
c.5A>G; p.D2G; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.3550C>A; p.H1184N; |
lung | carcinoma; squamous_cell_carcinoma |
c.2005G>A; p.E669K; |
lung | carcinoma; adenocarcinoma |
c.1018A>C; p.N340H; |
lung | carcinoma; adenocarcinoma |
c.1984A>G; p.K662E; |
lung | carcinoma; adenocarcinoma |
c.3096G>T; p.M1032I; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.2551A>C; p.N851H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1109A>G; p.Q370R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.839delA; p.N280fs*8; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3017_3018insT; p.L1006fs*5; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1351T>G; p.L451V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2059C>T; p.P687S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3503A>G; p.D1168G; 16:23522339-23522339 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1110G>A; p.Q370Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3335C>T; p.P1112L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1005T>C; p.N335N; |
large_intestine; colon | NS |
c.3366C>T; p.D1122D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2413G>T; p.V805F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3026_3027insC; p.E1010fs*1; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2855A>G; p.D952G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2996+10G>A; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.541G>T; p.E181*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2258G>A; p.R753Q; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.57G>T; p.E19D; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2208C>A; p.A736A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3200T>C; p.M1067T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.872C>T; p.A291V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1109A>G; p.Q370R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3517G>T; p.A1173S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.768C>T; p.S256S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3364G>A; p.D1122N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2595A>T; p.S865S; |
breast | carcinoma |
c.3436C>T; p.Q1146*; |
breast | carcinoma |
c.456G>C; p.K152N; |
urinary_tract; bladder | carcinoma |
c.1366G>C; p.E456Q; |
urinary_tract; bladder | carcinoma |
c.3503A>G; p.D1168G; 16:23522339-23522339 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3132A>G; p.Q1044Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.195G>A; p.P65P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2506G>A; p.V836I; |
urinary_tract; bladder | carcinoma |
c.1458A>G; p.K486K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.44A>G; p.E15G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.26T>C; p.L9P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1806A>G; p.Q602Q; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3503A>G; p.D1168G; 16:23522339-23522339 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1457A>G; p.K486R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3503A>G; p.D1168G; 16:23522339-23522339 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.886delA; p.M296fs*1; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1137G>C; p.K379N; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2639C>T; p.A880V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2328C>T; p.F776F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.997A>G; p.T333A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1637T>C; p.V546A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1586C>T; p.P529L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1458A>G; p.K486K; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3306C>T; p.S1102S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1109A>G; p.Q370R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.45A>G; p.E15E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.828C>T; p.H276H; |
prostate | carcinoma |
c.2679T>G; p.D893E; |
skin | malignant_melanoma |
c.2083A>G; p.K695E; |
skin; mucosal | malignant_melanoma |
c.660T>A; p.S220R; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.659G>A; p.S220N; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |