| Gene ID | 4760 |
| Symbol | NEUROD1 |
| Synonymous | BETA2|BHF-1|MODY6|NEUROD|bHLHa3 |
| Full name | neuronal differentiation 1 |
| Gene description | basic helix-loop-helix transcription factor|beta-cell E-box transactivator 2|class A basic helix-loop-helix protein 3|neurogenic differentiation factor 1|neurogenic helix-loop-helix protein NEUROD |
| Cytoband | 2q32 |
| Gene type | protein-coding |
| Synonymous | MIM:601724; HGNC:HGNC:7762; Ensembl:ENSG00000162992; HPRD:03428; Vega:OTTHUMG00000132583 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.779C>T; p.P260L; 2:181678082-181678082 |
prostate | carcinoma | Substitution - Missense |
c.1069T>C; p.*357Q; 2:181677792-181677792 |
large_intestine; colon | carcinoma; adenocarcinoma | Nonstop extension |
c.485G>A; p.S162N; 2:181678376-181678376 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.293G>A; p.R98H; 2:181678568-181678568 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.549G>A; p.L183L; 2:181678312-181678312 |
skin | malignant_melanoma | Substitution - coding silent |
c.637T>G; p.S213A; 2:181678224-181678224 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.637T>G; p.S213A; 2:181678224-181678224 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.254G>A; p.G85D; 2:181678607-181678607 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.431G>A; p.R144H; 2:181678430-181678430 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.431G>A; p.R144H; 2:181678430-181678430 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.917C>T; p.A306V; 2:181677944-181677944 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.484delA; p.S162fs*100; 2:181678377-181678377 |
thyroid | carcinoma; anaplastic_carcinoma | Deletion - Frameshift |
c.917C>T; p.A306V; 2:181677944-181677944 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.819C>T; p.L273L; 2:181678042-181678042 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - coding silent |
c.554C>T; p.A185V; 2:181678307-181678307 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.257C>T; p.P86L; 2:181678604-181678604 |
skin | malignant_melanoma | Substitution - Missense |
c.145G>A; p.E49K; 2:181678716-181678716 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.714T>C; p.H238H; 2:181678147-181678147 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.714T>C; p.H238H; 2:181678147-181678147 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.867G>A; p.P289P; 2:181677994-181677994 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.431G>T; p.R144L; 2:181678430-181678430 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.741C>T; p.H247H; 2:181678120-181678120 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.457C>G; p.L153V; 2:181678404-181678404 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.232G>A; p.D78N; 2:181678629-181678629 |
skin | malignant_melanoma | Substitution - Missense |
c.1009G>A; p.D337N; 2:181677852-181677852 |
skin | malignant_melanoma | Substitution - Missense |
c.653C>A; p.P218H; 2:181678208-181678208 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.329A>G; p.E110G; 2:181678532-181678532 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.276T>A; p.T92T; 2:181678585-181678585 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.609G>T; p.M203I; 2:181678252-181678252 |
breast | carcinoma | Substitution - Missense |
c.275C>A; p.T92N; 2:181678586-181678586 |
skin | malignant_melanoma | Substitution - Missense |
c.561C>T; p.C187C; 2:181678300-181678300 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - coding silent |
c.251G>A; p.R84H; 2:181678610-181678610 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.828G>A; p.P276P; 2:181678033-181678033 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.267G>A; p.K89K; 2:181678594-181678594 |
breast | carcinoma | Substitution - coding silent |
c.751G>A; p.A251T; 2:181678110-181678110 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.12G>A; p.S4S; 2:181678849-181678849 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.312G>A; p.M104I; 2:181678549-181678549 |
skin | malignant_melanoma | Substitution - Missense |
c.634G>A; p.A212T; 2:181678227-181678227 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.969C>G; p.A323A; 2:181677892-181677892 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.969C>G; p.A323A; 2:181677892-181677892 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.825G>A; p.P275P; 2:181678036-181678036 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.842G>A; p.G281D; 2:181678019-181678019 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.616_617insC; p.H206fs*38; 2:181678244-181678245 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.943G>A; p.G315R; 2:181677918-181677918 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.616_617insC; p.H206fs*38; 2:181678244-181678245 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.328G>A; p.E110K; 2:181678533-181678533 |
skin | malignant_melanoma | Substitution - Missense |
c.1036A>G; p.M346V; 2:181677825-181677825 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.709T>C; p.S237P; 2:181678152-181678152 |
skin | malignant_melanoma | Substitution - Missense |
c.253G>A; p.G85S; 2:181678608-181678608 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.332G>C; p.R111P; 2:181678529-181678529 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.332G>C; p.R111P; 2:181678529-181678529 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.984C>T; p.I328I; 2:181677877-181677877 |
skin | malignant_melanoma | Substitution - coding silent |
c.924G>A; p.L308L; 2:181677937-181677937 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.159G>T; p.L53L; 2:181678702-181678702 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.217G>A; p.E73K; 2:181678644-181678644 |
skin | malignant_melanoma | Substitution - Missense |
c.654_655insC; p.Y219fs*25; 2:181678206-181678207 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.644C>T; p.P215L; 2:181678217-181678217 |
breast | carcinoma | Substitution - Missense |
c.354C>T; p.N118N; 2:181678507-181678507 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.844A>T; p.N282Y; 2:181678017-181678017 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.151G>T; p.D51Y; 2:181678710-181678710 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.883A>G; p.K295E; 2:181677978-181677978 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.48C>A; p.P16P; 2:181678813-181678813 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.184G>A; p.E62K; 2:181678677-181678677 |
skin | malignant_melanoma | Substitution - Missense |
c.184G>A; p.E62K; 2:181678677-181678677 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.789T>A; p.D263E; 2:181678072-181678072 |
breast | carcinoma | Substitution - Missense |
c.338G>A; p.R113H; 2:181678523-181678523 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.338G>A; p.R113H; 2:181678523-181678523 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.115A>T; p.K39*; 2:181678746-181678746 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.472C>A; p.R158S; 2:181678389-181678389 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.452G>T; p.W151L; 2:181678409-181678409 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.940C>A; p.H314N; 2:181677921-181677921 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.441G>T; p.K147N; 2:181678420-181678420 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.441G>T; p.K147N; 2:181678420-181678420 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.862G>T; p.E288*; 2:181677999-181677999 |
lung | carcinoma; small_cell_carcinoma | Substitution - Nonsense |
c.427C>G; p.L143V; 2:181678434-181678434 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1063C>T; p.H355Y; 2:181677798-181677798 |
skin | malignant_melanoma | Substitution - Missense |
c.223G>T; p.E75*; 2:181678638-181678638 |
lung | carcinoma; small_cell_carcinoma | Substitution - Nonsense |
c.634G>T; p.A212S; 2:181678227-181678227 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.73G>C; p.E25Q; 2:181678788-181678788 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.133A>G; p.T45A; 2:181678728-181678728 |
prostate | adenoma | Substitution - Missense |
c.133A>G; p.T45A; 2:181678728-181678728 |
thyroid | other; neoplasm | Substitution - Missense |
c.973C>T; p.R325C; 2:181677888-181677888 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.116A>G; p.K39R; 2:181678745-181678745 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.116A>G; p.K39R; 2:181678745-181678745 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.450C>T; p.I150I; 2:181678411-181678411 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.450C>T; p.I150I; 2:181678411-181678411 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.546C>T; p.N182N; 2:181678315-181678315 |
breast | carcinoma | Substitution - coding silent |
c.346G>C; p.G116R; 2:181678515-181678515 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.985C>T; p.P329S; 2:181677876-181677876 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.741C>G; p.H247Q; 2:181678120-181678120 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.72C>T; p.D24D; 2:181678789-181678789 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.72C>T; p.D24D; 2:181678789-181678789 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.616delC; p.H206fs*56; 2:181678245-181678245 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.530C>T; p.S177F; 2:181678331-181678331 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.681C>A; p.P227P; 2:181678180-181678180 |
ovary | other; neoplasm | Substitution - coding silent |
c.681C>A; p.P227P; 2:181678180-181678180 |
ovary | other; neoplasm | Substitution - coding silent |
c.226G>T; p.D76Y; 2:181678635-181678635 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.681C>A; p.P227P; 2:181678180-181678180 |
ovary | other; neoplasm | Substitution - coding silent |
c.374G>A; p.R125H; 2:181678487-181678487 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.73G>A; p.E25K; 2:181678788-181678788 |
pancreas | carcinoma | Substitution - Missense |
c.745T>C; p.Y249H; 2:181678116-181678116 |
liver | carcinoma | Substitution - Missense |
c.73G>A; p.E25K; 2:181678788-181678788 |
pancreas | carcinoma | Substitution - Missense |
c.683G>T; p.S228I; 2:181678178-181678178 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.683G>T; p.S228I; 2:181678178-181678178 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.560G>A; p.C187Y; 2:181678301-181678301 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.437C>T; p.A146V; 2:181678424-181678424 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.726T>A; p.V242V; 2:181678135-181678135 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.346G>A; p.G116R; 2:181678515-181678515 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1042G>T; p.A348S; 2:181677819-181677819 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.284G>A; p.R95H; 2:181678577-181678577 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1024C>T; p.H342Y; 2:181677837-181677837 |
skin | malignant_melanoma | Substitution - Missense |
c.357G>A; p.A119A; 2:181678504-181678504 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.485G>C; p.S162T; 2:181678376-181678376 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.126C>T; p.D42D; 2:181678735-181678735 |
prostate | adenoma | Substitution - coding silent |
c.687G>A; p.P229P; 2:181678174-181678174 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.597G>A; p.Q199Q; 2:181678264-181678264 |
skin | malignant_melanoma | Substitution - coding silent |
c.102C>T; p.H34H; 2:181678759-181678759 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.326G>T; p.R109L; 2:181678535-181678535 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.138G>T; p.M46I; 2:181678723-181678723 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.934C>G; p.Q312E; 2:181677927-181677927 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.871G>A; p.A291T; 2:181677990-181677990 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.172G>C; p.E58Q; 2:181678689-181678689 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.117G>T; p.K39N; 2:181678744-181678744 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.94G>A; p.E32K; 2:181678767-181678767 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.141C>T; p.N47N; 2:181678720-181678720 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.555G>A; p.A185A; 2:181678306-181678306 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.782T>C; p.L261P; 2:181678079-181678079 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.141C>T; p.N47N; 2:181678720-181678720 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.141C>T; p.N47N; 2:181678720-181678720 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.141C>T; p.N47N; 2:181678720-181678720 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.664_665insC; p.Q222fs*22; 2:181678196-181678197 |
ovary | carcinoma; serous_carcinoma | Insertion - Frameshift |
c.555G>A; p.A185A; 2:181678306-181678306 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1046A>C; p.Q349P; 2:181677815-181677815 |
skin | malignant_melanoma | Substitution - Missense |
c.141C>T; p.N47N; 2:181678720-181678720 |
pancreas | carcinoma | Substitution - coding silent |
c.264G>T; p.K88N; 2:181678597-181678597 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.872C>T; p.A291V; 2:181677989-181677989 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.264G>T; p.K88N; 2:181678597-181678597 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.912T>A; p.P304P; 2:181677949-181677949 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.420C>T; p.I140I; 2:181678441-181678441 |
skin | malignant_melanoma | Substitution - coding silent |