| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 10111 |
Name | RAD50 |
Synonymous | NBSLD|RAD502|hRad50;RAD50 homolog (S. cerevisiae);RAD50;RAD50 homolog (S. cerevisiae) |
Definition | DNA repair protein RAD50 |
Position | 5q31 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for RAD50 | ||
PCGP somatic mutation [Top] | ||
There is no record for RAD50 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.675C>T; p.I225I; |
NS | malignant_melanoma |
c.1648C>T; p.Q550*; |
NS | malignant_melanoma |
c.1971G>A; p.E657E; |
NS | malignant_melanoma |
c.675C>T; p.I225I; |
NS | malignant_melanoma |
c.1648C>T; p.Q550*; |
NS | malignant_melanoma |
c.1971G>A; p.E657E; |
NS | malignant_melanoma |
c.2512G>T; p.E838*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2909T>C; p.I970T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3223C>T; p.R1075C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3320C>T; p.A1107V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3182G>A; p.R1061Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.891_895delAACTG; p.L300fs*4; |
pancreas | carcinoma |
c.2460A>G; p.K820K; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.2376_2377insA; p.N795fs*10; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.2833G>A; p.E945K; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.3079C>T; p.R1027W; |
oesophagus | carcinoma; adenocarcinoma |
c.1561G>T; p.A521S; |
liver | carcinoma; hepatocellular_carcinoma |
c.2149C>T; p.Q717*; |
liver | carcinoma |
c.265A>G; p.T89A; |
liver | carcinoma |
c.3494T>C; p.V1165A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3104C>T; p.S1035L; |
liver | carcinoma |
c.2899G>C; p.E967Q; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.891_895delAACTG; p.L300fs*4; |
pancreas | carcinoma; ductal_carcinoma |
c.1280T>C; p.L427P; |
lung | carcinoma; adenocarcinoma |
c.3185G>T; p.C1062F; |
lung | carcinoma; adenocarcinoma |
c.2502G>A; p.K834K; |
lung | carcinoma; adenocarcinoma |
c.4A>T; p.I2F; |
lung | carcinoma; adenocarcinoma |
c.1909G>A; p.G637S; |
lung | carcinoma; adenocarcinoma |
c.1549C>T; p.R517*; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.3123G>A; p.R1041R; 5:132001736-132001736 |
skin | malignant_melanoma |
c.1219-1G>T; p.?; 5:131955467-131955467 |
lung | carcinoma; non_small_cell_carcinoma |
c.1219-1G>T; p.?; 5:131955467-131955467 |
lung | carcinoma; non_small_cell_carcinoma |
c.2100A>T; p.L700F; |
liver | carcinoma; hepatocellular_carcinoma |
c.1740A>T; p.L580L; |
breast | carcinoma; HER-positive_carcinoma |
c.1427T>G; p.L476R; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma |
c.1065C>G; p.N355K; |
liver | carcinoma |
c.3125_3126insT; p.Y1043fs*2; |
liver | carcinoma |
c.1609G>T; p.E537*; |
central_nervous_system; cerebrum | glioma; astrocytoma_Grade_IV |
c.1096A>G; p.I366V; |
prostate | adenoma |
c.2376_2377insA; p.N795fs*10; |
autonomic_ganglia | neuroblastoma |
c.1007T>C; p.L336P; |
autonomic_ganglia | neuroblastoma |
c.876G>C; p.E292D; |
ovary | carcinoma; serous_carcinoma |
c.1699C>G; p.R567G; |
lung | carcinoma; adenocarcinoma |
c.45C>T; p.V15V; |
lung | carcinoma; squamous_cell_carcinoma |
c.2794C>T; p.H932Y; |
lung | carcinoma; squamous_cell_carcinoma |
c.3326C>G; p.A1109G; 5:132004387-132004387 |
ovary | carcinoma; serous_carcinoma |
c.2798A>G; p.N933S; |
lung | carcinoma; squamous_cell_carcinoma |
c.1823T>A; p.I608K; |
lung | carcinoma; squamous_cell_carcinoma |
c.600C>A; p.L200L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.3153G>A; p.K1051K; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.3475G>C; p.E1159Q; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.3153G>T; p.K1051N; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.11C>A; p.S4Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3214C>T; p.L1072F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2376_2377insA; p.N795fs*10; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3327T>C; p.A1109A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1740delA; p.K583fs*14; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2876G>A; p.R959Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.753A>G; p.E251E; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.127G>A; p.A43T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.737G>A; p.R246H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2446C>A; p.H816N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1740delA; p.K583fs*14; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3260G>T; p.G1087V; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.456G>T; p.E152D; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.68C>A; p.S23Y; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1020G>T; p.Q340H; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.160C>T; p.R54W; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.913G>A; p.E305K; |
breast | carcinoma |
c.1993G>T; p.D665Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2803G>A; p.A935T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.196G>T; p.E66*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1857T>C; p.N619N; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1252T>C; p.S418P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1253C>A; p.S418Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2860C>T; p.R954*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3463G>A; p.D1155N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2875C>T; p.R959W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1740delA; p.K583fs*14; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3340A>C; p.I1114L; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1699C>T; p.R567*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2233C>T; p.R745C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2789G>T; p.R930I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2769G>T; p.E923D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1073T>C; p.V358A; |
breast | carcinoma |
c.3094G>A; p.E1032K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1891G>T; p.E631*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2002A>C; p.R668R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1256G>T; p.R419M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2953T>G; p.Y985D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2789G>T; p.R930I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.769T>C; p.F257L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1085A>G; p.K362R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2680G>T; p.E894*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1453A>G; p.S485G; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.3122G>A; p.R1041Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3418C>T; p.R1140C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2377delA; p.N795fs*6; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.119delT; p.S42fs*9; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1740delA; p.K583fs*14; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2377delA; p.N795fs*6; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3409C>T; p.L1137F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1740delA; p.K583fs*14; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2819A>C; p.K940T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1161G>T; p.E387D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.32T>C; p.V11A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1760G>A; p.R587H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1151A>G; p.Q384R; |
urinary_tract; bladder | carcinoma |
c.3264C>T; p.I1088I; |
cervix | carcinoma; squamous_cell_carcinoma |
c.1597C>T; p.Q533*; |
urinary_tract; bladder | carcinoma |
c.3327T>C; p.A1109A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1740delA; p.K583fs*14; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3327T>C; p.A1109A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.874G>C; p.E292Q; |
urinary_tract; bladder | carcinoma |
c.945G>A; p.Q315Q; |
urinary_tract; bladder | carcinoma |
c.954G>A; p.L318L; |
urinary_tract; bladder | carcinoma |
c.985G>A; p.E329K; |
urinary_tract; bladder | carcinoma |
c.652G>C; p.A218P; |
prostate | carcinoma |
c.2051G>A; p.R684Q; |
skin | malignant_melanoma |
c.3091G>A; p.D1031N; |
skin | malignant_melanoma |
c.475C>T; p.Q159*; |
skin; mucosal | malignant_melanoma |
c.2341G>A; p.E781K; |
skin; face | carcinoma; squamous_cell_carcinoma |
c.2593A>C; p.M865L; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |