| Gene ID | 4925 |
| Symbol | NUCB2 |
| Synonymous | HEL-S-109|NEFA |
| Full name | nucleobindin 2 |
| Gene description | DNA-binding protein NEFA|epididymis secretory protein Li 109|gastric cancer antigen Zg4|nesfatin 1|nesfatin-1|nucleobindin-2|nucleobinding 2|prepronefastin|prepronesfatin |
| Cytoband | 11p15.1 |
| Gene type | protein-coding |
| Synonymous | MIM:608020; HGNC:HGNC:8044; Ensembl:ENSG00000070081; HPRD:09726 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1045G>A; p.E349K; 11:17330169-17330169 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.913-6A>G; p.?; 11:17315380-17315380 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.520C>A; p.H174N; 11:17310861-17310861 |
skin | malignant_melanoma | Substitution - Missense |
c.553G>T; p.E185*; 11:17310894-17310894 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.999G>T; p.W333C; 11:17315472-17315472 |
liver | carcinoma | Substitution - Missense |
c.999G>T; p.W333C; 11:17315472-17315472 |
liver | carcinoma | Substitution - Missense |
c.140C>A; p.P47Q; 11:17295463-17295463 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.578A>G; p.K193R; 11:17310919-17310919 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1138G>A; p.D380N; 11:17330262-17330262 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.401C>T; p.A134V; 11:17309593-17309593 |
skin | malignant_melanoma | Substitution - Missense |
c.707C>G; p.T236S; 11:17311230-17311230 |
thyroid | other; neoplasm | Substitution - Missense |
c.851A>G; p.E284G; 11:17312059-17312059 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1014G>A; p.Q338Q; 11:17330138-17330138 |
liver | carcinoma | Substitution - coding silent |
c.589G>A; p.E197K; 11:17310930-17310930 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1129C>T; p.R377C; 11:17330253-17330253 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.691G>T; p.E231*; 11:17311214-17311214 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1203_1205delACA; p.Q403delQ; 11:17330931-17330933 |
thyroid | carcinoma; medullary_carcinoma | Deletion - In frame |
c.705G>A; p.E235E; 11:17311228-17311228 |
thyroid | other; neoplasm | Substitution - coding silent |
c.597G>C; p.K199N; 11:17310938-17310938 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.379G>T; p.D127Y; 11:17301870-17301870 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.145G>C; p.D49H; 11:17296104-17296104 |
soft_tissue; fibrous_tissue_and_uncertain_o | gastrointestinal_stromal_tumour | Substitution - Missense |
c.713G>A; p.G238E; 11:17311236-17311236 |
skin | malignant_melanoma | Substitution - Missense |
c.477C>A; p.I159I; 11:17309669-17309669 |
breast | carcinoma | Substitution - coding silent |
c.842A>C; p.K281T; 11:17312050-17312050 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.269A>C; p.K90T; 11:17301760-17301760 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.968delA; p.E326fs*11; 11:17315441-17315441 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.614C>T; p.S205F; 11:17310955-17310955 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.650A>C; p.H217P; 11:17310991-17310991 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1078G>A; p.E360K; 11:17330202-17330202 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1078G>A; p.E360K; 11:17330202-17330202 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1040T>C; p.L347P; 11:17330164-17330164 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.391G>A; p.D131N; 11:17309583-17309583 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1045G>T; p.E349*; 11:17330169-17330169 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1193delA; p.K400fs*15; 11:17330921-17330921 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1193delA; p.K400fs*15; 11:17330921-17330921 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1193delA; p.K400fs*15; 11:17330921-17330921 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1193delA; p.K400fs*15; 11:17330921-17330921 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.529T>G; p.F177V; 11:17310870-17310870 |
breast | carcinoma | Substitution - Missense |
c.664C>T; p.H222Y; 11:17311005-17311005 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.1012C>G; p.Q338E; 11:17330136-17330136 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.419A>G; p.D140G; 11:17309611-17309611 |
central_nervous_system; brainstem | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.174C>T; p.L58L; 11:17296133-17296133 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.568G>T; p.E190*; 11:17310909-17310909 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.488C>T; p.T163I; 11:17310829-17310829 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.552G>T; p.K184N; 11:17310893-17310893 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1102C>A; p.L368I; 11:17330226-17330226 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.744_745insT; p.K251fs*4; 11:17311267-17311268 |
large_intestine; caecum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.679G>T; p.D227Y; 11:17311202-17311202 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.440C>T; p.P147L; 11:17309632-17309632 |
pancreas | carcinoma | Substitution - Missense |
c.372C>T; p.S124S; 11:17301863-17301863 |
skin | malignant_melanoma | Substitution - coding silent |
c.508G>T; p.D170Y; 11:17310849-17310849 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6G>A; p.R2R; 11:17295329-17295329 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.518G>A; p.R173H; 11:17310859-17310859 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.991G>T; p.D331Y; 11:17315464-17315464 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.596A>C; p.K199T; 11:17310937-17310937 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.797T>C; p.L266S; 11:17311908-17311908 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.698G>T; p.W233L; 11:17311221-17311221 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.775G>T; p.G259*; 11:17311886-17311886 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.114C>T; p.H38H; 11:17295437-17295437 |
skin | malignant_melanoma | Substitution - coding silent |