| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 9429 |
Name | ABCG2 |
Synonymous | ABC15|ABCP|BCRP|BCRP1|BMDP|CD338|CDw338|EST157481|MRX|MXR|MXR1;ATP-binding cassette, sub-family G (WHITE), member 2;ABCG2;ATP-binding cassette, sub-family G (WHITE), member 2 |
Definition | ABC transporter|ATP-binding cassette sub-family G member 2|ATP-binding cassette transporter G2|breast cancer resistance protein|mitoxantrone resistance protein|mitoxantrone resistance-associated protein|multi drug resistance efflux transport ATP-binding c |
Position | 4q22 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for ABCG2 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
ABCG2_Q393K; chr4; 89034472 |
SUB; MISSENSE; G; G/T; SOMATIC | MB; VALID; WGS |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.263C>T; p.S88L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.863A>C; p.N288T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.473delA; p.N158fs*11; |
liver | carcinoma |
c.568G>A; p.E190K; 4:89261932-89261932 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.61C>T; p.P21S; |
oesophagus | carcinoma; adenocarcinoma |
c.1333G>A; p.V445M; |
oesophagus | carcinoma; adenocarcinoma |
c.421C>A; p.Q141K; |
stomach | carcinoma; adenocarcinoma |
c.1613C>G; p.T538R; |
liver | carcinoma |
c.458C>T; p.T153M; |
large_intestine; colon | carcinoma |
c.1843G>A; p.V615I; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.1861C>G; p.L621V; |
lung | carcinoma; adenocarcinoma |
c.1234A>T; p.I412F; |
lung | carcinoma; adenocarcinoma |
c.157C>G; p.L53V; |
lung | carcinoma; adenocarcinoma |
c.1320C>G; p.S440R; |
lung | carcinoma; adenocarcinoma |
c.812A>T; p.Q271L; |
lung | carcinoma; adenocarcinoma |
c.463C>T; p.H155Y; |
skin; extremity | malignant_melanoma |
c.1195-1G>A; p.?; |
skin; extremity | malignant_melanoma |
c.271G>C; p.D91H; |
breast | carcinoma; ductal_carcinoma |
c.301G>T; p.G101*; |
breast | carcinoma; ductal_carcinoma |
c.166C>T; p.R56*; |
breast | carcinoma; ductal_carcinoma |
c.1443G>A; p.M481I; |
breast | carcinoma; HER-positive_carcinoma |
c.1521C>T; p.F507F; |
prostate | carcinoma |
c.1716C>T; p.S572S; |
liver | carcinoma |
c.1177C>A; p.Q393K; |
central_nervous_system; cerebellum | primitive_neuroectodermal_tumour-medulloblastoma; SHH_subtype |
c.603C>A; p.I201I; |
ovary | carcinoma; serous_carcinoma |
c.514A>C; p.K172Q; |
lung | carcinoma; squamous_cell_carcinoma |
c.1594A>T; p.S532C; |
lung | carcinoma; adenocarcinoma |
c.431C>A; p.A144E; |
lung | carcinoma; squamous_cell_carcinoma |
c.426C>T; p.F142F; |
lung | carcinoma; adenocarcinoma |
c.1890C>A; p.H630Q; |
lung; middle_lobe | carcinoma; adenocarcinoma |
c.1016C>T; p.S339F; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1280C>A; p.A427D; |
lung | carcinoma; adenocarcinoma |
c.1396G>A; p.V466M; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1368-2A>T; p.?; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.1852G>A; p.G618S; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.531G>A; p.K177K; |
lung | carcinoma; squamous_cell_carcinoma |
c.1060G>T; p.G354W; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.930A>G; p.E310E; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1493-2dela; p.?; |
breast | carcinoma |
c.1959delA; p.K653fs*>3; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.327T>C; p.N109N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.21A>C; p.E7D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1857C>T; p.I619I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1000G>A; p.E334K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1957A>G; p.K653E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1056T>A; p.L352L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.439C>T; p.R147W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.843T>C; p.G281G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.478C>T; p.R160W; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1527G>T; p.M509I; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1356G>T; p.K452N; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.568G>T; p.E190*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.263C>T; p.S88L; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1336delG; p.E446fs*5; |
endometrium | carcinoma; endometrioid_carcinoma |
c.853G>A; p.E285K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.18C>T; p.V6V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1944G>T; p.L648F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.194C>T; p.S65L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.64G>A; p.A22T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1213C>A; p.L405M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.418T>G; p.L140V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.993A>T; p.K331N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.482T>G; p.I161S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1659T>C; p.G553G; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.882C>A; p.F294L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.412G>T; p.E138*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.195G>A; p.S65S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.338G>A; p.R113Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1059C>T; p.S353S; |
breast | carcinoma |
c.134G>A; p.R45Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1604C>A; p.S535Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.706C>T; p.R236*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1480T>A; p.Y494N; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.649G>T; p.D217Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.459G>A; p.T153T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1210G>A; p.V404I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.740A>G; p.Y247C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1253delA; p.N418fs*16; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.569A>G; p.E190G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1948T>C; p.F650L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1209C>G; p.V403V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.569A>G; p.E190G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.569A>G; p.E190G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1775G>A; p.C592Y; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.527C>A; p.S176Y; |
prostate | carcinoma |
c.1429G>A; p.D477N; |
skin; scalp | malignant_melanoma |
c.785G>A; p.G262E; |
skin | malignant_melanoma |
c.565G>A; p.G189R; |
skin | malignant_melanoma |
c.5C>T; p.S2F; |
skin; neck | malignant_melanoma |
c.79G>T; p.D27Y; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |