| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 4683 |
Name | NBN |
Synonymous | AT-V1|AT-V2|ATV|NBS|NBS1|P95;nibrin;NBN;nibrin |
Definition | Nijmegen breakage syndrome 1 (nibrin)|cell cycle regulatory protein p95|p95 protein of the MRE11/RAD50 complex |
Position | 8q21 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for NBN | ||
PCGP somatic mutation [Top] | ||
There is no record for NBN | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.904C>A; p.L302I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1535A>G; p.E512G; |
lung | carcinoma; undifferentiated_carcinoma |
c.425A>G; p.N142S; |
oesophagus | carcinoma; adenocarcinoma |
c.1036G>A; p.V346M; |
oesophagus | carcinoma; adenocarcinoma |
c.1497A>G; p.S499S; |
oesophagus | carcinoma; adenocarcinoma |
c.1398-10delt; p.?; |
oesophagus | carcinoma; adenocarcinoma |
c.128G>A; p.R43Q; |
oesophagus | carcinoma; adenocarcinoma |
c.671G>C; p.G224A; |
lung | carcinoma; large_cell_carcinoma |
c.1681G>A; p.E561K; |
lung | carcinoma; non_small_cell_carcinoma |
c.1066G>A; p.A356T; |
lung | carcinoma; non_small_cell_carcinoma |
c.459A>G; p.V153V; |
liver | carcinoma |
c.724G>C; p.V242L; |
liver | carcinoma |
c.705T>G; p.H235Q; |
liver | carcinoma |
c.2128G>T; p.A710S; |
large_intestine; colon | carcinoma |
c.50G>C; p.R17T; |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma |
c.1131G>C; p.L377F; |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma |
c.1454C>T; p.T485M; |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma |
c.2052T>A; p.N684K; |
lung | carcinoma; adenocarcinoma |
c.308delG; p.G103fs*6; |
lung | carcinoma; adenocarcinoma |
c.1052A>G; p.K351R; |
lung | carcinoma; adenocarcinoma |
c.366C>G; p.V122V; |
lung | carcinoma; adenocarcinoma |
c.1253C>G; p.S418*; |
lung | carcinoma; adenocarcinoma |
c.1936G>T; p.D646Y; |
lung | carcinoma; adenocarcinoma |
c.1471G>T; p.E491*; |
skin; extremity | malignant_melanoma |
c.585T>A; p.S195R; |
autonomic_ganglia | neuroblastoma |
c.671G>C; p.G224A; |
lung | carcinoma; large_cell_carcinoma |
c.1115C>T; p.A372V; |
pancreas | carcinoma; ductal_carcinoma |
c.373_378>C; p.K125fs*34; 8:91062240-91062245 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2035T>C; p.Y679H; |
kidney | carcinoma |
c.2192delA; p.N731fs*20; 8:91018472-91018472 |
kidney | carcinoma |
c.1089C>T; p.Y363Y; |
prostate | carcinoma |
c.1992T>G; p.I664M; |
lung | carcinoma; small_cell_carcinoma |
c.244A>G; p.K82E; |
prostate | adenoma |
c.504A>G; p.G168G; 8:91059704-91059704 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.2242C>T; p.P748S; 8:91017009-91017009 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1296A>G; p.S432S; 8:91036788-91036788 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.123C>T; p.I41I; |
ovary | carcinoma; serous_carcinoma |
c.814G>A; p.D272N; |
ovary | carcinoma; serous_carcinoma |
c.22G>A; p.A8T; |
lung | carcinoma; squamous_cell_carcinoma |
c.1013C>T; p.P338L; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.162A>T; p.V54V; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.850G>C; p.D284H; |
lung | carcinoma; adenocarcinoma |
c.2185G>C; p.V729L; |
lung | carcinoma; adenocarcinoma |
c.1980A>G; p.R660R; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1458T>C; p.S486S; |
lung | carcinoma; squamous_cell_carcinoma |
c.666C>T; p.F222F; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.1296A>G; p.S432S; 8:91036788-91036788 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.504A>G; p.G168G; 8:91059704-91059704 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1296A>G; p.S432S; 8:91036788-91036788 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1651delA; p.R551fs*8; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1651delA; p.R551fs*8; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1911A>G; p.I637M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2062T>G; p.F688V; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1060C>T; p.P354S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.803C>T; p.T268M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1627G>A; p.E543K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1906G>T; p.E636*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1340C>A; p.S447Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.16C>T; p.P6S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2053T>G; p.F685V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.128G>A; p.R43Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1577C>T; p.T526I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.653G>T; p.R218I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1870C>T; p.R624C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.965A>G; p.Y322C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2141G>T; p.R714L; |
prostate | carcinoma; adenocarcinoma |
c.1294T>C; p.S432P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1958_1959insA; p.L654fs*5; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1396delA; p.R466fs*18; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.504A>G; p.G168G; 8:91059704-91059704 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1253C>A; p.S418*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.851A>G; p.D284G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2219C>T; p.A740V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.504A>G; p.G168G; 8:91059704-91059704 |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2134C>T; p.H712Y; |
urinary_tract; bladder | carcinoma |
c.325G>A; p.E109K; |
urinary_tract; bladder | carcinoma |
c.504A>G; p.G168G; 8:91059704-91059704 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.979G>T; p.G327C; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1982C>A; p.S661*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.503G>T; p.G168V; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.107A>C; p.E36A; |
urinary_tract; bladder | carcinoma |
c.393T>C; p.A131A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1296A>G; p.S432S; 8:91036788-91036788 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.580G>A; p.E194K; |
urinary_tract; bladder | carcinoma |
c.266G>A; p.R89Q; |
urinary_tract; bladder | carcinoma |
c.557C>T; p.S186F; |
skin; mucosal | malignant_melanoma |