| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 5933 |
Name | RBL1 |
Synonymous | CP107|PRB1|p107;retinoblastoma-like 1 (p107);RBL1;retinoblastoma-like 1 (p107) |
Definition | 107 kDa retinoblastoma-associated protein|cellular protein 107|retinoblastoma-like protein 1 |
Position | 20q11.2 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for RBL1 | ||
PCGP somatic mutation [Top] | ||
There is no record for RBL1 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.2785G>C; p.D929H; |
liver | carcinoma; hepatocellular_carcinoma |
c.1500C>T; p.S500S; |
skin; arm | malignant_melanoma |
c.1499C>T; p.S500F; |
skin; arm | malignant_melanoma |
c.967G>A; p.G323R; 20:35124017-35124017 |
lung | carcinoma; adenocarcinoma |
c.1864G>T; p.V622F; 20:35102009-35102009 |
lung | carcinoma; adenocarcinoma |
c.3037_3038delAG; p.S1013fs*12; 20:35060745-35060746 |
lung | carcinoma; adenocarcinoma |
c.752T>C; p.V251A; 20:35128635-35128635 |
lung | carcinoma; adenocarcinoma |
c.291-3delt; p.?; |
NS | malignant_melanoma |
c.1492C>A; p.H498N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1904-3delt; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2871+1G>A; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1064T>C; p.L355P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2510A>G; p.D837G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1877G>A; p.R626Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.829A>C; p.K277Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1265A>G; p.N422S; |
pancreas | carcinoma |
c.409A>C; p.K137Q; |
skin; hand | malignant_melanoma |
c.792_793insA; p.G265fs*8; |
liver | carcinoma |
c.1704G>C; p.W568C; 20:35105969-35105969 |
lung | carcinoma; adenocarcinoma |
c.1876C>T; p.R626*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1811A>C; p.N604T; |
liver | carcinoma |
c.3130A>G; p.K1044E; |
large_intestine; colon | carcinoma |
c.275G>T; p.R92L; |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma |
c.1265A>G; p.N422S; |
pancreas | carcinoma; ductal_carcinoma |
c.2044A>C; p.K682Q; |
lung | carcinoma; adenocarcinoma |
c.2806A>C; p.T936P; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.2933G>A; p.R978H; |
lung | carcinoma; adenocarcinoma |
c.1008C>A; p.F336L; |
lung | carcinoma; adenocarcinoma |
c.1468G>A; p.V490I; |
skin; trunk | malignant_melanoma |
c.1083+1G>A; p.?; |
skin; extremity | malignant_melanoma |
c.492-1_492GG>AA; p.?; |
NS | malignant_melanoma |
c.1704G>C; p.W568C; 20:35105969-35105969 |
lung | carcinoma; non_small_cell_carcinoma |
c.2084C>T; p.S695L; |
breast | carcinoma; HER-positive_carcinoma |
c.3177G>A; p.Q1059Q; |
liver | carcinoma |
c.1565T>A; p.I522N; |
liver | carcinoma |
c.1365C>T; p.D455D; |
lung | carcinoma; small_cell_carcinoma |
c.2176G>A; p.A726T; |
lung | carcinoma; adenocarcinoma |
c.2382G>C; p.K794N; 20:35094482-35094482 |
ovary | carcinoma; serous_carcinoma |
c.1316G>A; p.C439Y; |
lung | carcinoma; squamous_cell_carcinoma |
c.2847C>T; p.Y949Y; 20:35069252-35069252 |
ovary | carcinoma; serous_carcinoma |
c.2753G>C; p.C918S; |
lung | carcinoma; squamous_cell_carcinoma |
c.364A>G; p.I122V; |
lung | carcinoma; squamous_cell_carcinoma |
c.1808G>C; p.G603A; |
lung | carcinoma; squamous_cell_carcinoma |
c.3022_3023GG>TT; p.G1008F; |
lung | carcinoma; adenocarcinoma |
c.3077A>C; p.Q1026P; |
lung | carcinoma; adenocarcinoma |
c.2987T>G; p.L996R; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2266C>A; p.H756N; |
lung | carcinoma; squamous_cell_carcinoma |
c.482G>A; p.R161Q; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.751G>T; p.V251L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1865T>C; p.V622A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.306delT; p.F102fs*4; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1967_1973delCTAAGAG; p.A656fs*18; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2668G>T; p.E890*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3105C>T; p.I1035I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1492C>A; p.H498N; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2450G>A; p.R817Q; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2639G>T; p.R880I; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2502A>G; p.L834L; |
breast | carcinoma |
c.387T>C; p.F129F; |
breast | carcinoma |
c.2355T>C; p.T785T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1711G>A; p.D571N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.476G>A; p.R159Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1496G>A; p.R499H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.121G>A; p.D41N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1584G>A; p.L528L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2668G>T; p.E890*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2576G>T; p.R859I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.476G>A; p.R159Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1702T>C; p.W568R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.349G>T; p.E117*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2407T>C; p.L803L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1704G>A; p.W568*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.847-1G>T; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.346C>T; p.Q116*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.355C>T; p.R119C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2782G>T; p.G928C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3034A>G; p.K1012E; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2404C>T; p.R802C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.565C>T; p.R189W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2712G>T; p.M904I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2351G>T; p.R784I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2848G>A; p.D950N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1523T>G; p.I508S; |
breast | carcinoma |
c.1711G>A; p.D571N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.387T>C; p.F129F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.753A>T; p.V251V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1865T>C; p.V622A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.969A>G; p.G323G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.817C>A; p.P273T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.969A>G; p.G323G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.752T>C; p.V251A; 20:35128635-35128635 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.969A>G; p.G323G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.566G>A; p.R189Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1113G>A; p.L371L; |
breast | carcinoma |
c.3142C>T; p.Q1048*; |
urinary_tract; bladder | carcinoma |
c.54G>T; p.G18G; |
urinary_tract; bladder | carcinoma |
c.2846A>G; p.Y949C; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2194A>C; p.I732L; |
breast | carcinoma |
c.3136G>T; p.V1046F; |
breast | carcinoma |
c.1869G>A; p.K623K; |
prostate | carcinoma; adenocarcinoma |
c.969A>G; p.G323G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.967G>A; p.G323R; 20:35124017-35124017 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2847C>A; p.Y949*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2226T>C; p.N742N; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1044G>T; p.Q348H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.221C>T; p.T74M; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1413A>T; p.I471I; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.2963C>T; p.S988F; |
skin | malignant_melanoma |
c.2899C>T; p.P967S; |
skin | malignant_melanoma |
c.3124C>T; p.P1042S; |
skin | malignant_melanoma |
c.3023G>T; p.G1008V; |
skin; neck | malignant_melanoma |
c.1471C>T; p.L491F; |
skin; ear | carcinoma; squamous_cell_carcinoma |
c.2722G>T; p.D908Y; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.492-3delt; p.?; |
stomach | adenocarcinoma |