| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 5934 |
Name | RBL2 |
Synonymous | P130|Rb2;retinoblastoma-like 2 (p130);RBL2;retinoblastoma-like 2 (p130) |
Definition | 130 kDa retinoblastoma-associated protein|PRB2|RBR-2|retinoblastoma-like protein 2|retinoblastoma-related protein 2 |
Position | 16q12.2 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for RBL2 | ||
PCGP somatic mutation [Top] | ||
There is no record for RBL2 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.445A>T; p.T149S; |
liver | carcinoma; hepatocellular_carcinoma |
c.3026_3028delACA; p.N1011delN; |
liver | carcinoma; hepatocellular_carcinoma |
c.1423C>G; p.Q475E; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.1100G>A; p.R367K; 16:52046176-52046176 |
lung | carcinoma; adenocarcinoma |
c.503C>T; p.P168L; 16:52034202-52034202 |
lung | carcinoma; adenocarcinoma |
c.2467G>A; p.V823I; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.2528T>C; p.V843A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2945G>A; p.S982N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.196G>A; p.A66T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.379G>T; p.E127*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1237A>C; p.S413R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.872A>C; p.K291T; |
pancreas | carcinoma; acinar_carcinoma |
c.813delC; p.P273fs*14; |
pancreas | carcinoma; acinar_carcinoma |
c.2053G>C; p.E685Q; |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.1360G>T; p.D454Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.496T>A; p.Y166N; |
liver | carcinoma |
c.536A>C; p.E179A; |
liver | carcinoma |
c.1781T>G; p.L594*; |
liver | carcinoma |
c.1586A>G; p.H529R; |
liver | carcinoma |
c.3300A>C; p.K1100N; |
liver | carcinoma |
c.3104C>A; p.S1035Y; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1522G>A; p.E508K; |
lung | carcinoma; adenocarcinoma |
c.1414C>T; p.Q472*; |
lung | carcinoma; adenocarcinoma |
c.574C>T; p.R192*; |
lung | carcinoma; adenocarcinoma |
c.2143G>A; p.E715K; |
lung | carcinoma; adenocarcinoma |
c.383T>A; p.F128Y; |
lung | carcinoma; adenocarcinoma |
c.1681C>T; p.L561F; |
skin; trunk | malignant_melanoma |
c.2914A>G; p.S972G; |
central_nervous_system; brain | glioma; oligodendroglioma_Grade_III |
c.1927C>T; p.P643S; |
ovary | carcinoma; serous_carcinoma |
c.3069G>A; p.K1023K; |
breast | carcinoma; ductal_carcinoma |
c.1764G>A; p.Q588Q; |
breast | carcinoma; HER-positive_carcinoma |
c.453A>G; p.R151R; |
liver | carcinoma |
c.1727_1750del24; p.D576_K584>E; |
lung | carcinoma; small_cell_carcinoma |
c.520T>C; p.F174L; |
lung | carcinoma; small_cell_carcinoma |
c.2708C>A; p.T903K; |
lung | carcinoma; adenocarcinoma |
c.547C>A; p.R183S; |
lung | carcinoma; squamous_cell_carcinoma |
c.2329A>T; p.I777F; |
lung | carcinoma; squamous_cell_carcinoma |
c.3269G>T; p.S1090I; 16:52081562-52081562 |
ovary | carcinoma; serous_carcinoma |
c.1639C>G; p.P547A; 16:52055717-52055717 |
ovary | carcinoma; serous_carcinoma |
c.2225C>T; p.T742M; |
ovary | carcinoma; serous_carcinoma |
c.369G>C; p.Q123H; |
lung | carcinoma; squamous_cell_carcinoma |
c.809C>T; p.S270F; |
lung | carcinoma; squamous_cell_carcinoma |
c.2740C>T; p.R914C; |
ovary | carcinoma; serous_carcinoma |
c.3120A>T; p.V1040V; |
lung; middle_lobe | carcinoma; adenocarcinoma |
c.1837G>T; p.E613*; |
lung | carcinoma; squamous_cell_carcinoma |
c.1836T>G; p.N612K; |
lung | carcinoma; squamous_cell_carcinoma |
c.2360G>C; p.G787A; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.3329G>A; p.S1110N; |
lung | carcinoma; squamous_cell_carcinoma |
c.3208C>A; p.R1070R; |
lung | carcinoma; squamous_cell_carcinoma |
c.2109A>G; p.L703L; |
lung | carcinoma; adenocarcinoma |
c.813C>T; p.D271D; |
lung | carcinoma; adenocarcinoma |
c.1938G>T; p.V646V; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1111G>A; p.A371T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.920delA; p.K309fs*14; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1641T>C; p.P547P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1614G>T; p.E538D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3337C>T; p.P1113S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1957A>G; p.T653A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3276A>G; p.I1092M; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1393G>T; p.E465*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.379G>A; p.E127K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3278G>A; p.R1093H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1532delA; p.R513fs*2; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1097C>T; p.S366L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1100G>T; p.R367M; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1640C>A; p.P547H; |
large_intestine; rectum | NS |
c.1099A>G; p.R367G; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.547C>T; p.R183C; |
breast | carcinoma |
c.1385G>A; p.R462K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1139delG; p.V381fs*3; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1478G>A; p.R493H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3139C>T; p.R1047*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1393G>T; p.E465*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2258A>C; p.E753A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.788C>T; p.A263V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.535G>A; p.E179K; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1099A>G; p.R367G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1682T>C; p.L561P; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.379G>A; p.E127K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.574C>T; p.R192*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2783G>A; p.R928K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2975G>T; p.G992V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.379G>A; p.E127K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1536A>C; p.K512N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3313C>A; p.L1105I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1393G>T; p.E465*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.379G>A; p.E127K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1510G>T; p.E504*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3211G>T; p.E1071*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2284G>C; p.V762L; |
urinary_tract; bladder | carcinoma |
c.1431C>T; p.D477D; |
urinary_tract; bladder | carcinoma |
c.2504C>A; p.S835Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1337A>C; p.Q446P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1948C>T; p.R650C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1432G>T; p.E478*; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1329A>G; p.K443K; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.403T>C; p.W135R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.503C>T; p.P168L; 16:52034202-52034202 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1099A>G; p.R367G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3277C>T; p.R1093C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2128C>T; p.Q710*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.379G>A; p.E127K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1092T>G; p.T364T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.503C>T; p.P168L; 16:52034202-52034202 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1101G>A; p.R367R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3024C>G; p.F1008L; |
urinary_tract; bladder | carcinoma |
c.504C>A; p.P168P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1617C>G; p.V539V; |
urinary_tract; bladder | carcinoma |
c.381A>T; p.E127D; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1386A>T; p.R462S; |
prostate | carcinoma |
c.2768G>A; p.R923Q; |
skin | malignant_melanoma |
c.1580C>T; p.A527V; |
skin | malignant_melanoma |
c.2432C>T; p.S811F; |
skin | malignant_melanoma |
c.260T>C; p.L87S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2703+6T>C; p.?; |
stomach | adenocarcinoma |