| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 596 |
Name | BCL2 |
Synonymous | Bcl-2|PPP1R50;B-cell CLL/lymphoma 2;BCL2;B-cell CLL/lymphoma 2 |
Definition | apoptosis regulator Bcl-2|protein phosphatase 1, regulatory subunit 50 |
Position | 18q21.33|18q21.3 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for BCL2 | ||
PCGP somatic mutation [Top] | ||
There is no record for BCL2 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.17G>T; p.R6I; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.142A>G; p.I48V; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.211C>T; p.P71S; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.373A>T; p.T125S; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm |
c.493G>A; p.E165K; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.103G>A; p.V35M; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.226G>A; p.A76T; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.260G>A; p.S87N; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.323A>C; p.Y108S; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.169C>G; p.P57A; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.179C>A; p.A60D; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.47T>G; p.M16R; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.60T>G; p.H20Q; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.221C>T; p.T74I; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.239C>T; p.A80V; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.31A>T; p.N11Y; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.437G>A; p.R146K; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.151T>C; p.S51P; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.476T>C; p.V159A; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.62A>G; p.Y21C; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.60T>G; p.H20Q; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.148T>C; p.S50P; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.310T>C; p.F104L; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.499T>G; p.S167A; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.392C>T; p.A131V; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.405G>C; p.E135D; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.83A>T; p.Y28F; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.467T>C; p.V156A; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.179C>G; p.A60G; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.392C>T; p.A131V; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.181G>A; p.A61T; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.140G>A; p.G47D; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.260G>A; p.S87N; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.179C>T; p.A60V; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.33C>G; p.N11K; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.80G>A; p.G27D; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.428A>G; p.N143S; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.136C>G; p.P46A; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.256C>T; p.L86F; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.47T>A; p.M16K; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.515A>G; p.N172S; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.155A>G; p.Q52R; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.20C>A; p.T7K; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.146T>C; p.F49S; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm |
c.20C>G; p.T7R; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm |
c.136C>G; p.P46A; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm |
c.355C>G; p.L119V; |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.146T>G; p.F49C; |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.261C>G; p.S87R; |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.101A>G; p.D34G; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.152C>A; p.S51Y; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.394A>T; p.T132S; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.437G>A; p.R146K; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.179C>T; p.A60V; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.179C>T; p.A60V; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.506T>A; p.L169Q; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.63T>C; p.Y21Y; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.516C>T; p.N172N; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.355C>T; p.L119L; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.4G>A; p.A2T; |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.7C>G; p.H3D; |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.392C>G; p.A131G; |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.14G>T; p.G5V; |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.176C>T; p.P59L; |
haematopoietic_and_lymphoid_tissue; tonsil | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.51G>T; p.K17N; |
haematopoietic_and_lymphoid_tissue; breast | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.51G>C; p.K17N; |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.98G>A; p.G33E; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.39G>C; p.E13D; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.537G>C; p.E179D; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.42A>G; p.I14M; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.94G>A; p.A32T; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.108C>T; p.G36G; |
oesophagus | carcinoma; adenocarcinoma |
c.202A>C; p.R68R; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.621G>A; p.R207R; |
oesophagus | carcinoma; adenocarcinoma |
c.178G>A; p.A60T; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.386G>A; p.R129H; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.145T>C; p.F49L; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.157C>T; p.P53S; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.179C>T; p.A60V; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.46A>G; p.M16V; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.312C>G; p.F104L; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.61T>C; p.Y21H; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.128C>T; p.A43V; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.193C>T; p.P65S; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.491G>A; p.R164Q; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.169C>T; p.P57S; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.205A>G; p.T69A; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.60T>A; p.H20Q; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.133G>T; p.A45S; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.91G>A; p.D31N; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.196G>A; p.V66I; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.26A>T; p.Y9F; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.110C>T; p.A37V; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.320G>T; p.R107L; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.20C>T; p.T7I; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.20C>T; p.T7I; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.140G>A; p.G47D; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.176C>T; p.P59L; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.549G>C; p.R183R; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.670G>T; p.A224S; |
lung | carcinoma; adenocarcinoma |
c.392C>T; p.A131V; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.560C>T; p.T187I; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.4G>A; p.A2T; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.189G>A; p.R63R; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.392C>T; p.A131V; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.560C>T; p.T187I; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.145T>C; p.F49L; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.483C>T; p.S161S; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.261C>T; p.S87S; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.255G>A; p.A85A; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.60T>C; p.H20H; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.30T>C; p.D10D; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.15G>A; p.G5G; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.91G>C; p.D31H; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.573T>C; p.D191D; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.21A>G; p.T7T; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.142A>T; p.I48F; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.216G>A; p.L72L; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.213G>A; p.P71P; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.253G>A; p.A85T; 18:59136627-59136627 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.375C>T; p.T125T; |
lung | carcinoma; adenocarcinoma |
c.50A>T; p.K17M; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.345G>A; p.M115I; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.333C>T; p.D111D; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.553C>T; p.L185L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.10G>C; p.A4P; |
lung | carcinoma; adenocarcinoma |
c.606C>T; p.Y202Y; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.5C>T; p.A2V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.619C>T; p.R207W; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.21A>G; p.T7T; |
breast | carcinoma |
c.411C>T; p.L137L; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.363G>A; p.L121L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.21A>G; p.T7T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.258C>T; p.L86L; |
urinary_tract; bladder | carcinoma |
c.39G>C; p.E13D; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.205A>C; p.T69P; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.10G>A; p.A4T; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.503C>G; p.P168R; |
skin | malignant_melanoma |
c.466G>C; p.V156L; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.360C>T; p.H120H; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |