| Gene ID | 50484 |
| Symbol | RRM2B |
| Synonymous | MTDPS8A|MTDPS8B|P53R2 |
| Full name | ribonucleotide reductase M2 B (TP53 inducible) |
| Gene description | TP53-inducible ribonucleotide reductase M2 B|p53-inducible ribonucleotide reductase small subunit 2 homolog|p53-inducible ribonucleotide reductase small subunit 2 short form beta|p53-inducible ribonucleotide reductase small subunit 2-like protein|ribonucl |
| Cytoband | 8q23.1 |
| Gene type | protein-coding |
| Synonymous | MIM:604712; HGNC:HGNC:17296; Ensembl:ENSG00000048392; HPRD:05276; Vega:OTTHUMG00000164776 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.517T>C; p.L173L; 8:102224079-102224079 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.520C>T; p.R174*; 8:102224076-102224076 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.235A>G; p.N79D; 8:102226004-102226004 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.969C>A; p.F323L; 8:102208220-102208220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.969C>A; p.F323L; 8:102208220-102208220 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.969C>A; p.F323L; 8:102208220-102208220 |
breast | carcinoma | Substitution - Missense |
c.362G>A; p.R121H; 8:102224978-102224978 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.343G>C; p.V115L; 8:102224997-102224997 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.923C>T; p.P308L; 8:102208266-102208266 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.610G>T; p.A204S; 8:102218888-102218888 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.713T>A; p.M238K; 8:102214130-102214130 |
skin | malignant_melanoma | Substitution - Missense |
c.450G>T; p.K150N; 8:102224890-102224890 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.50G>C; p.R17T; 8:102232303-102232303 |
pancreas | carcinoma | Substitution - Missense |
c.584G>T; p.G195V; 8:102218914-102218914 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.226C>A; p.P76T; 8:102226013-102226013 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.204+4C>T; p.?; 8:102232145-102232145 |
pancreas | carcinoma | Unknown |
c.997C>T; p.R333C; 8:102208192-102208192 |
pancreas | carcinoma | Substitution - Missense |
c.498G>C; p.K166N; 8:102224098-102224098 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.539A>T; p.K180I; 8:102224057-102224057 |
skin | malignant_melanoma | Substitution - Missense |
c.470A>G; p.N157S; 8:102224126-102224126 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.922C>T; p.P308S; 8:102208267-102208267 |
skin | malignant_melanoma | Substitution - Missense |
c.922C>T; p.P308S; 8:102208267-102208267 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.240G>T; p.K80N; 8:102225999-102225999 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6C>T; p.G2G; 8:102238869-102238869 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.473C>T; p.A158V; 8:102224123-102224123 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.731A>G; p.N244S; 8:102214112-102214112 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.979C>T; p.R327*; 8:102208210-102208210 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.669C>A; p.L223L; 8:102218829-102218829 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.980G>C; p.R327P; 8:102208209-102208209 |
kidney | carcinoma; renal_cell_carcinoma | Substitution - Missense |
c.328C>T; p.R110C; 8:102225012-102225012 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.225C>T; p.L75L; 8:102226014-102226014 |
skin | malignant_melanoma | Substitution - coding silent |
c.756G>A; p.R252R; 8:102214087-102214087 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.239A>G; p.K80R; 8:102226000-102226000 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.403T>C; p.S135P; 8:102224937-102224937 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.790G>A; p.E264K; 8:102212889-102212889 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.773C>T; p.A258V; 8:102214070-102214070 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.177A>G; p.A59A; 8:102232176-102232176 |
skin | malignant_melanoma | Substitution - coding silent |
c.73A>G; p.S25G; 8:102232280-102232280 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.73A>G; p.S25G; 8:102232280-102232280 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.73A>G; p.S25G; 8:102232280-102232280 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.73A>G; p.S25G; 8:102232280-102232280 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.802G>A; p.E268K; 8:102212877-102212877 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1046C>T; p.A349V; 8:102208143-102208143 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.49-1G>A; p.?; 8:102232305-102232305 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Unknown |
c.271C>T; p.H91Y; 8:102225968-102225968 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4G>T; p.G2C; 8:102238871-102238871 |
liver | carcinoma | Substitution - Missense |
c.4G>T; p.G2C; 8:102238871-102238871 |
liver | carcinoma | Substitution - Missense |
c.313G>A; p.E105K; 8:102225926-102225926 |
liver | carcinoma | Substitution - Missense |
c.116C>A; p.S39Y; 8:102232237-102232237 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.497A>G; p.K166R; 8:102224099-102224099 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.140T>C; p.I47T; 8:102232213-102232213 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.32G>C; p.G11A; 8:102238843-102238843 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.463T>G; p.L155V; 8:102224133-102224133 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.551G>T; p.G184V; 8:102218947-102218947 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.361C>T; p.R121C; 8:102224979-102224979 |
ovary | other; neoplasm | Substitution - Missense |
c.947C>G; p.S316C; 8:102208242-102208242 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.838A>G; p.I280V; 8:102212841-102212841 |
skin | malignant_melanoma | Substitution - Missense |
c.212T>A; p.L71*; 8:102226027-102226027 |
skin | malignant_melanoma | Substitution - Nonsense |
c.22G>A; p.E8K; 8:102238853-102238853 |
parathyroid | carcinoma | Substitution - Missense |
c.574G>T; p.A192S; 8:102218924-102218924 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.700T>A; p.F234I; 8:102214143-102214143 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.789+7C>T; p.?; 8:102214047-102214047 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Unknown |
c.969C>G; p.F323L; 8:102208220-102208220 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.846G>C; p.M282I; 8:102212833-102212833 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.947C>A; p.S316Y; 8:102208242-102208242 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.606T>C; p.F202F; 8:102218892-102218892 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |