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Pediatric cancer database
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

5243

Name

ABCB1

Synonymous

ABC20|CD243|CLCS|GP170|MDR1|P-GP|PGY1;ATP-binding cassette, sub-family B (MDR/TAP), member 1;ABCB1;ATP-binding cassette, sub-family B (MDR/TAP), member 1

Definition

P-glycoprotein 1|colchicin sensitivity|doxorubicin resistance|multidrug resistance protein 1

Position

7q21.12

Gene Type

protein-coding

Gene Mutation:

PCGP germline mutation
PCGP somatic mutation
COSMIC somatic mutation

PCGP germline mutation   [Top]

There is no record for ABCB1

PCGP somatic mutation   [Top]

There is no record for ABCB1

COSMIC somatic mutation   [Top]

Mutation (CDS; AA; Chr)

Site

Histology

c.2634G>T; p.M878I;

lungcarcinoma; small_cell_carcinoma

c.1855A>G; p.K619E;

lungcarcinoma; small_cell_carcinoma

c.1990A>G; p.R664G;

NSmalignant_melanoma

c.1990A>G; p.R664G;

NSmalignant_melanoma

c.53A>C; p.K18T;

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinoma

c.1379C>A; p.T460N;

lungcarcinoma; small_cell_carcinoma

c.766G>T; p.E256*;

large_intestine; coloncarcinoma; adenocarcinoma

c.3796A>G; p.I1266V;

large_intestine; coloncarcinoma; adenocarcinoma

c.2275T>C; p.F759L;

large_intestine; coloncarcinoma; adenocarcinoma

c.3228G>T; p.K1076N;

large_intestine; coloncarcinoma; adenocarcinoma

c.1840G>T; p.E614*;

large_intestine; coloncarcinoma; adenocarcinoma

c.1005C>A; p.F335L;

large_intestine; coloncarcinoma; adenocarcinoma

c.785G>T; p.R262I;

large_intestine; coloncarcinoma; adenocarcinoma

c.857G>T; p.R286I;

large_intestine; coloncarcinoma; adenocarcinoma

c.1137G>A; p.S379S;

pancreascarcinoma

c.3800A>G; p.Y1267C;

lungcarcinoma

c.748G>A; p.A250T; 7:87028594-87028594

central_nervous_system; brainglioma; astrocytoma_Grade_IV

c.485G>A; p.W162*;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma

c.3117A>C; p.E1039D;

oesophaguscarcinoma; adenocarcinoma

c.3182A>G; p.K1061R;

oesophaguscarcinoma; adenocarcinoma

c.2744A>G; p.K915R;

oesophaguscarcinoma; adenocarcinoma

c.2528T>G; p.L843R;

oesophagus; lower_thirdcarcinoma; adenocarcinoma

c.2744A>C; p.K915T;

oesophagus; lower_thirdcarcinoma; adenocarcinoma

c.1788C>T; p.D596D;

oesophaguscarcinoma; adenocarcinoma

c.3194C>T; p.T1065M;

oesophaguscarcinoma; adenocarcinoma

c.2974A>G; p.S992G;

oesophaguscarcinoma; adenocarcinoma

c.2065-1G>T; p.?;

oesophaguscarcinoma; adenocarcinoma

c.1994A>G; p.K665R;

oesophaguscarcinoma; adenocarcinoma

c.3107C>T; p.T1036I;

lungcarcinoma; small_cell_carcinoma

c.1847T>C; p.M616T;

livercarcinoma

c.3842G>T; p.*1281L;

large_intestine; coloncarcinoma; adenocarcinoma

c.3596T>C; p.L1199S;

large_intestine; coloncarcinoma; adenocarcinoma

c.1176G>T; p.L392F;

large_intestine; coloncarcinoma; adenocarcinoma

c.847G>T; p.E283*;

large_intestine; coloncarcinoma; adenocarcinoma

c.2280A>T; p.L760L;

livercarcinoma

c.2995G>A; p.A999T;

large_intestine; coloncarcinoma

c.1137G>A; p.S379S;

pancreascarcinoma; ductal_carcinoma

c.34_36delAAG; p.K14delK;

ovarycarcinoma

c.1471G>A; p.G491S;

skin; armmalignant_melanoma

c.3327C>T; p.L1109L;

skin; legmalignant_melanoma; superficial_spreading

c.2855C>T; p.S952F;

skin; trunkmalignant_melanoma; nodular

c.304G>C; p.G102R;

lungcarcinoma; adenocarcinoma

c.2987C>T; p.P996L;

lungcarcinoma; adenocarcinoma

c.2759A>G; p.Y920C;

lungcarcinoma; adenocarcinoma

c.572G>T; p.G191V;

lungcarcinoma; adenocarcinoma

c.1337C>A; p.P446H;

lungcarcinoma; adenocarcinoma

c.2397+1G>T; p.?;

lungcarcinoma; adenocarcinoma

c.2681G>C; p.G894A;

lungcarcinoma; adenocarcinoma

c.1399C>A; p.R467R;

lungcarcinoma; adenocarcinoma

c.2807A>G; p.H936R;

lungcarcinoma; adenocarcinoma

c.164C>G; p.T55S;

lungcarcinoma; adenocarcinoma

c.3430G>C; p.E1144Q;

lungcarcinoma; adenocarcinoma

c.3143C>T; p.P1048L;

lungcarcinoma; adenocarcinoma

c.2269C>A; p.L757I;

lungcarcinoma; adenocarcinoma

c.2245C>T; p.R749*; 7:87008683-87008683

lungcarcinoma; adenocarcinoma

c.1656C>A; p.L552L;

lungcarcinoma; adenocarcinoma

c.3226A>G; p.K1076E;

lungcarcinoma; adenocarcinoma

c.470G>T; p.R157L;

lungcarcinoma; adenocarcinoma

c.2864G>T; p.G955V;

lungcarcinoma; adenocarcinoma

c.3019C>A; p.H1007N;

lungcarcinoma; adenocarcinoma

c.2896C>A; p.H966N;

lungcarcinoma; adenocarcinoma

c.1720G>C; p.D574H;

lungcarcinoma; adenocarcinoma

c.3533G>T; p.G1178V;

lungcarcinoma; adenocarcinoma

c.1025delC; p.A342fs*27;

lungcarcinoma; adenocarcinoma

c.2678C>A; p.S893Y;

lungcarcinoma; adenocarcinoma

c.1399C>T; p.R467W;

central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastoma

c.3355G>A; p.E1119K;

skin; extremitymalignant_melanoma

c.1106T>C; p.I369T;

skin; extremitymalignant_melanoma

c.1371T>A; p.D457E;

NSmalignant_melanoma

c.2661G>T; p.K887N; 7:86998570-86998570

large_intestine; coloncarcinoma; adenocarcinoma

c.1399C>T; p.R467W;

prostatecarcinoma

c.1614G>T; p.R538S;

breastcarcinoma

c.703-1G>C; p.?;

breastcarcinoma

c.1568T>A; p.L523Q;

prostatecarcinoma

c.661A>G; p.I221V;

livercarcinoma

c.1051A>G; p.S351G;

livercarcinoma

c.3496A>T; p.S1166C;

lungcarcinoma; small_cell_carcinoma

c.2102T>G; p.M701R;

breastcarcinoma; ductal_carcinoma

c.3649G>A; p.A1217T;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemia

c.61A>G; p.N21D;

prostateadenoma

c.1137G>A; p.S379S;

endometriumcarcinoma; serous_carcinoma

c.961G>C; p.V321L;

autonomic_ganglianeuroblastoma

c.3557T>C; p.I1186T;

lungcarcinoma; adenocarcinoma

c.696G>T; p.W232C;

lungcarcinoma; adenocarcinoma

c.771C>A; p.V257V;

lungcarcinoma; adenocarcinoma

c.1136C>A; p.S379*;

lungcarcinoma; adenocarcinoma

c.2245C>T; p.R749*; 7:87008683-87008683

ovarycarcinoma; serous_carcinoma

c.3147C>T; p.D1049D; 7:86982618-86982618

ovarycarcinoma; serous_carcinoma

c.3253C>T; p.R1085W; 7:86982512-86982512

ovarycarcinoma; serous_carcinoma

c.2855C>T; p.S952F;

lungcarcinoma; squamous_cell_carcinoma

c.862G>T; p.G288W;

lungcarcinoma; squamous_cell_carcinoma

c.443G>C; p.R148T;

lungcarcinoma; squamous_cell_carcinoma

c.2165G>T; p.G722V; 7:87011427-87011427

ovarycarcinoma; serous_carcinoma

c.2170C>A; p.L724M;

ovarycarcinoma; serous_carcinoma

c.3213C>A; p.S1071R;

ovarycarcinoma; serous_carcinoma

c.745A>G; p.K249E;

lungcarcinoma; squamous_cell_carcinoma

c.893C>G; p.S298C;

lungcarcinoma; squamous_cell_carcinoma

c.2717C>A; p.T906N;

lungcarcinoma; squamous_cell_carcinoma

c.1294G>A; p.G432R;

lungcarcinoma; adenocarcinoma

c.2020G>T; p.G674*;

lungcarcinoma; squamous_cell_carcinoma

c.2279T>C; p.L760P;

lungcarcinoma; squamous_cell_carcinoma

c.1446C>A; p.T482T;

lungcarcinoma; adenocarcinoma

c.3231C>A; p.S1077R;

lungcarcinoma; adenocarcinoma

c.1144G>A; p.G382R;

lungcarcinoma; adenocarcinoma

c.2684A>T; p.K895M;

lungcarcinoma; adenocarcinoma

c.2005C>G; p.R669G;

lung; right_lower_lobecarcinoma; adenocarcinoma

c.2920G>T; p.V974F;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.805G>A; p.G269R;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.3073G>T; p.G1025C;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.382G>T; p.A128S;

lungcarcinoma; squamous_cell_carcinoma

c.755C>A; p.A252E;

lungcarcinoma; adenocarcinoma

c.3764G>T; p.G1255V;

lungcarcinoma; adenocarcinoma

c.1786G>C; p.D596H;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.308T>A; p.F103Y;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.3055G>T; p.D1019Y;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.2522C>A; p.A841E;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.2577G>A; p.L859L;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.749C>A; p.A250D;

lung; right_lower_lobecarcinoma; adenocarcinoma

c.579C>G; p.F193L;

lungcarcinoma; squamous_cell_carcinoma

c.763G>C; p.E255Q;

lungcarcinoma; squamous_cell_carcinoma

c.1999T>A; p.S667T;

lungcarcinoma; squamous_cell_carcinoma

c.1301G>T; p.S434I;

lungcarcinoma; squamous_cell_carcinoma

c.2222G>T; p.R741I;

lungcarcinoma; squamous_cell_carcinoma

c.493G>A; p.V165M;

lungcarcinoma; squamous_cell_carcinoma

c.2021G>C; p.G674A;

lungcarcinoma; squamous_cell_carcinoma

c.2695G>A; p.E899K;

lungcarcinoma; squamous_cell_carcinoma

c.1555-1G>A; p.?;

lungcarcinoma; squamous_cell_carcinoma

c.3523C>T; p.Q1175*;

lungcarcinoma; squamous_cell_carcinoma

c.1980C>A; p.S660S;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.3827G>C; p.G1276A;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.2359C>T; p.R787W;

lungcarcinoma; adenocarcinoma

c.2397+1G>T; p.?;

lungcarcinoma; adenocarcinoma

c.325G>T; p.E109*;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.304G>T; p.G102W;

lung; right_lower_lobecarcinoma; adenocarcinoma

c.122G>T; p.R41L;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.1475G>T; p.R492L;

lungcarcinoma; adenocarcinoma

c.2501C>T; p.A834V;

lung; right_lower_lobecarcinoma; adenocarcinoma

c.2966G>A; p.G989E;

breastcarcinoma

c.3609G>A; p.T1203T;

breastcarcinoma

c.1812A>G; p.G604G;

breastcarcinoma

c.2556C>A; p.I852I;

endometriumcarcinoma; endometrioid_carcinoma

c.1581_1582delAG; p.A529fs*27;

large_intestine; coloncarcinoma; adenocarcinoma

c.3226A>G; p.K1076E;

large_intestine; coloncarcinoma; adenocarcinoma

c.2296T>A; p.S766T;

large_intestine; coloncarcinoma; adenocarcinoma

c.102C>T; p.V34V;

breastcarcinoma

c.1211G>A; p.R404Q;

large_intestine; coloncarcinoma; adenocarcinoma

c.2961C>T; p.A987A;

large_intestine; coloncarcinoma; adenocarcinoma

c.880A>G; p.T294A;

large_intestine; coloncarcinoma; adenocarcinoma

c.3751G>A; p.V1251I;

large_intestine; coloncarcinoma; adenocarcinoma

c.1608G>A; p.K536K;

large_intestine; coloncarcinoma; adenocarcinoma

c.3104T>C; p.V1035A;

large_intestine; caecumcarcinoma; adenocarcinoma

c.36G>T; p.K12N;

large_intestine; coloncarcinoma; adenocarcinoma

c.1092A>C; p.E364D;

large_intestine; coloncarcinoma; adenocarcinoma

c.2365C>T; p.R789*;

large_intestine; caecumcarcinoma; adenocarcinoma

c.2428A>G; p.T810A;

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia

c.3674G>A; p.R1225H;

large_intestine; coloncarcinoma; adenocarcinoma

c.1790T>C; p.V597A;

large_intestine; coloncarcinoma; adenocarcinoma

c.1519G>A; p.A507T;

large_intestine; rectumcarcinoma; adenocarcinoma

c.2398G>T; p.D800Y;

large_intestine; rectumcarcinoma; adenocarcinoma

c.2704G>T; p.E902*;

large_intestine; rectumcarcinoma; adenocarcinoma

c.857G>T; p.R286I;

large_intestine; rectumcarcinoma; adenocarcinoma

c.3644A>G; p.Q1215R;

large_intestine; rectumcarcinoma; adenocarcinoma

c.1852G>C; p.E618Q;

endometriumcarcinoma; endometrioid_carcinoma

c.1251G>A; p.V417V;

breastcarcinoma

c.1466G>A; p.R489H;

endometriumcarcinoma; endometrioid_carcinoma

c.2135T>C; p.V712A;

endometriumcarcinoma; endometrioid_carcinoma

c.1137G>A; p.S379S;

endometriumcarcinoma; endometrioid_carcinoma

c.1603C>T; p.Q535*;

endometriumcarcinoma; endometrioid_carcinoma

c.918C>A; p.I306I;

endometriumcarcinoma; endometrioid_carcinoma

c.806G>A; p.G269E;

endometriumcarcinoma; endometrioid_carcinoma

c.1628G>A; p.R543H;

endometriumcarcinoma; endometrioid_carcinoma

c.2674G>T; p.G892C;

endometriumcarcinoma; endometrioid_carcinoma

c.2320G>A; p.G774S;

breastcarcinoma

c.602delT; p.F201fs*5;

large_intestine; caecumcarcinoma; adenocarcinoma

c.2615G>T; p.G872V;

endometriumcarcinoma; endometrioid_carcinoma

c.2288G>T; p.G763V;

endometriumcarcinoma; endometrioid_carcinoma

c.1932C>A; p.S644S;

endometriumcarcinoma; endometrioid_carcinoma

c.1035T>C; p.V345V;

endometriumcarcinoma; endometrioid_carcinoma

c.817G>T; p.E273*;

endometriumcarcinoma; endometrioid_carcinoma

c.100G>A; p.V34I;

endometriumcarcinoma; endometrioid_carcinoma

c.1095C>A; p.I365I;

endometriumcarcinoma; endometrioid_carcinoma

c.817G>T; p.E273*;

endometriumcarcinoma; endometrioid_carcinoma

c.118-1G>T; p.?;

endometriumcarcinoma; endometrioid_carcinoma

c.2263T>C; p.F755L;

endometriumcarcinoma; endometrioid_carcinoma

c.42G>T; p.K14N;

large_intestine; caecumcarcinoma; adenocarcinoma

c.2521G>A; p.A841T;

large_intestine; caecumcarcinoma; adenocarcinoma

c.2191A>C; p.I731L;

large_intestine; caecumcarcinoma; adenocarcinoma

c.689C>T; p.A230V;

large_intestine; coloncarcinoma; adenocarcinoma

c.2166A>G; p.G722G;

large_intestine; coloncarcinoma; adenocarcinoma

c.184G>A; p.G62R;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.548A>G; p.N183S;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.2413G>A; p.D805N;

endometriumcarcinoma; endometrioid_carcinoma

c.1368G>T; p.Q456H;

endometriumcarcinoma; endometrioid_carcinoma

c.2920G>T; p.V974F;

endometriumcarcinoma; endometrioid_carcinoma

c.836A>C; p.K279T;

endometriumcarcinoma; endometrioid_carcinoma

c.1803C>T; p.F601F;

breastcarcinoma

c.1561G>C; p.D521H;

breastcarcinoma

c.1175T>C; p.L392S;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.1140G>T; p.K380N;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.1784C>G; p.A595G;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.3244C>A; p.L1082I;

endometriumcarcinoma; endometrioid_carcinoma

c.122G>A; p.R41H;

endometriumcarcinoma; endometrioid_carcinoma

c.1399C>T; p.R467W;

endometriumcarcinoma; endometrioid_carcinoma

c.1725+1G>C; p.?;

endometriumcarcinoma; endometrioid_carcinoma

c.2816G>C; p.G939A;

breastcarcinoma

c.974A>G; p.E325G;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.913C>T; p.L305L;

endometriumcarcinoma; endometrioid_carcinoma

c.287-1G>T; p.?;

endometriumcarcinoma; endometrioid_carcinoma

c.2374G>A; p.V792I;

endometriumcarcinoma; endometrioid_carcinoma

c.1991G>T; p.R664I;

endometriumcarcinoma; endometrioid_carcinoma

c.1066G>T; p.A356S;

endometriumcarcinoma; endometrioid_carcinoma

c.991G>T; p.V331L;

endometriumcarcinoma; endometrioid_carcinoma

c.42G>T; p.K14N;

endometriumcarcinoma; endometrioid_carcinoma

c.1480A>C; p.N494H;

endometriumcarcinoma; endometrioid_carcinoma

c.817G>T; p.E273*;

endometriumcarcinoma; endometrioid_carcinoma

c.703-1G>T; p.?;

endometriumcarcinoma; endometrioid_carcinoma

c.301A>G; p.T101A;

endometriumcarcinoma; endometrioid_carcinoma

c.75A>G; p.K25K;

breastcarcinoma

c.3628A>C; p.S1210R;

large_intestine; coloncarcinoma; adenocarcinoma

c.857G>T; p.R286I;

large_intestine; coloncarcinoma; adenocarcinoma

c.2659A>G; p.K887E;

large_intestine; rectumcarcinoma; adenocarcinoma

c.3146A>G; p.D1049G;

large_intestine; coloncarcinoma; adenocarcinoma

c.1292G>A; p.C431Y;

large_intestine; coloncarcinoma; adenocarcinoma

c.117G>T; p.M39I;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.421G>T; p.G141*;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.828-1G>T; p.?;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.525T>C; p.L175L;

endometriumcarcinoma; endometrioid_carcinoma

c.1811G>A; p.G604E;

endometriumcarcinoma; endometrioid_carcinoma

c.469C>T; p.R157*;

endometriumcarcinoma; endometrioid_carcinoma

c.2088C>A; p.S696S;

endometriumcarcinoma; endometrioid_carcinoma

c.1465C>T; p.R489C;

endometriumcarcinoma; endometrioid_carcinoma

c.284G>T; p.R95I;

endometriumcarcinoma; endometrioid_carcinoma

c.2455G>A; p.A819T;

large_intestine; coloncarcinoma; adenocarcinoma

c.1542G>A; p.M514I;

large_intestine; coloncarcinoma; adenocarcinoma

c.3041A>G; p.K1014R;

endometriumcarcinoma; endometrioid_carcinoma

c.1553A>G; p.H518R;

endometriumcarcinoma; endometrioid_carcinoma

c.44A>G; p.N15S;

endometriumcarcinoma; endometrioid_carcinoma

c.2246G>T; p.R749L;

large_intestine; coloncarcinoma; adenocarcinoma

c.750T>C; p.A250A;

large_intestine; coloncarcinoma; adenocarcinoma

c.663C>T; p.I221I;

large_intestine; coloncarcinoma; adenocarcinoma

c.2413G>T; p.D805Y;

urinary_tract; bladdercarcinoma

c.2742G>T; p.Q914H;

urinary_tract; bladdercarcinoma

c.2041A>G; p.K681E;

urinary_tract; bladdercarcinoma

c.1108G>C; p.D370H;

urinary_tract; bladdercarcinoma

c.3043A>T; p.T1015S;

large_intestine; coloncarcinoma; adenocarcinoma

c.1972T>C; p.S658P;

large_intestine; coloncarcinoma; adenocarcinoma

c.42_44delGAA; p.K14delK;

large_intestine; coloncarcinoma; adenocarcinoma

c.122G>A; p.R41H;

large_intestine; caecumcarcinoma; adenocarcinoma

c.1399C>T; p.R467W;

prostatecarcinoma; adenocarcinoma

c.3487A>G; p.N1163D;

prostatecarcinoma; adenocarcinoma

c.3673C>T; p.R1225C;

prostatecarcinoma

c.1752G>A; p.V584V;

prostatecarcinoma

c.3518G>A; p.G1173E;

skinmalignant_melanoma

c.3793G>A; p.G1265S;

skinmalignant_melanoma

c.121C>T; p.R41C;

skinmalignant_melanoma

c.1829G>A; p.G610E;

skinmalignant_melanoma

c.3601G>A; p.E1201K;

skinmalignant_melanoma

c.184G>A; p.G62R;

skinmalignant_melanoma

c.2702T>A; p.I901K;

skin; mucosalmalignant_melanoma

c.602_603TC>AT; p.F201Y;

skin; scalpcarcinoma; squamous_cell_carcinoma

c.318T>G; p.N106K;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.2246G>A; p.R749Q;

stomachadenocarcinoma

c.339-4delt; p.?;

stomachadenocarcinoma


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