| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 8714 |
Name | ABCC3 |
Synonymous | ABC31|EST90757|MLP2|MOAT-D|MRP3|cMOAT2;ATP-binding cassette, sub-family C (CFTR/MRP), member 3;ABCC3;ATP-binding cassette, sub-family C (CFTR/MRP), member 3 |
Definition | ATP-binding cassette sub-family C member 3|canalicular multispecific organic anion transporter 2|canicular multispecific organic anion transporter|multi-specific organic anion transporter D|multidrug resistance associated protein|multidrug resistance-asso |
Position | 17q22 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for ABCC3 | ||
PCGP somatic mutation [Top] | ||
There is no record for ABCC3 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.3890G>A; p.R1297H; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.4265G>A; p.G1422D; |
skin; arm | malignant_melanoma |
c.1975G>A; p.V659M; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.1802G>A; p.R601Q; |
skin; upper_arm | malignant_melanoma |
c.1318G>A; p.A440T; |
NS | malignant_melanoma |
c.1318G>A; p.A440T; |
NS | malignant_melanoma |
c.1005G>A; p.L335L; |
skin; foot | malignant_melanoma; acral_lentiginous |
c.2281C>T; p.L761L; |
NS | malignant_melanoma |
c.1052T>C; p.L351P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1955C>T; p.P652L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4513G>T; p.D1505Y; 17:46123489-46123489 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1915G>T; p.D639Y; |
skin; upper_arm | malignant_melanoma |
c.1881C>T; p.I627I; |
oesophagus | carcinoma; adenocarcinoma |
c.2501C>T; p.P834L; |
oesophagus | carcinoma; adenocarcinoma |
c.862C>T; p.L288L; |
liver | carcinoma; hepatocellular_carcinoma |
c.2395G>T; p.V799L; |
liver | carcinoma |
c.2416G>A; p.V806M; |
large_intestine; colon | carcinoma |
c.4292G>A; p.R1431K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3657C>A; p.S1219R; |
lung | carcinoma; adenocarcinoma |
c.684C>G; p.I228M; |
lung | carcinoma; adenocarcinoma |
c.3480C>G; p.V1160V; |
lung | carcinoma; adenocarcinoma |
c.3459G>C; p.E1153D; |
lung | carcinoma; adenocarcinoma |
c.1065G>T; p.L355L; |
lung | carcinoma; adenocarcinoma |
c.618C>G; p.P206P; |
lung | carcinoma; adenocarcinoma |
c.259G>T; p.D87Y; |
lung | carcinoma; adenocarcinoma |
c.2350C>T; p.H784Y; |
lung | carcinoma; adenocarcinoma |
c.2361G>C; p.K787N; |
lung | carcinoma; adenocarcinoma |
c.3164C>T; p.S1055L; |
lung | carcinoma; adenocarcinoma |
c.3799G>C; p.E1267Q; |
lung | carcinoma; adenocarcinoma |
c.3889C>T; p.R1297C; |
lung | carcinoma; adenocarcinoma |
c.401C>T; p.S134L; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia |
c.2562C>T; p.P854P; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.401C>T; p.S134L; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia |
c.401C>T; p.S134L; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.4501G>A; p.V1501I; |
prostate | carcinoma |
c.1622G>T; p.C541F; |
liver | carcinoma; hepatocellular_carcinoma |
c.3431G>C; p.R1144P; |
breast | carcinoma |
c.3569T>C; p.I1190T; |
lung | carcinoma; small_cell_carcinoma |
c.4448G>A; p.R1483Q; |
large_intestine; colon | adenoma |
c.1801C>T; p.R601W; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1801C>T; p.R601W; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1338G>C; p.Q446H; |
prostate | carcinoma |
c.1536G>T; p.K512N; |
lung | carcinoma; squamous_cell_carcinoma |
c.2950G>C; p.A984P; |
lung | carcinoma; squamous_cell_carcinoma |
c.1399G>A; p.G467R; |
ovary | carcinoma; serous_carcinoma |
c.2428C>T; p.H810Y; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1693G>T; p.A565S; |
lung | carcinoma; adenocarcinoma |
c.4312C>G; p.R1438G; |
lung | carcinoma; squamous_cell_carcinoma |
c.4093C>G; p.Q1365E; |
lung | carcinoma; adenocarcinoma |
c.736G>A; p.E246K; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.228G>T; p.L76L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1974C>T; p.A658A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3174C>T; p.S1058S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2897_2898insG; p.L968fs*31; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4422C>A; p.T1474T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.258G>A; p.A86A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2714+2T>C; p.?; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.338G>T; p.G113V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3320G>A; p.S1107N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1756C>T; p.P586S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1057G>A; p.A353T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3811C>T; p.P1271S; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.649C>T; p.R217C; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1656G>A; p.W552*; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2608G>T; p.G870C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4440C>T; p.I1480I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.198C>T; p.L66L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4142G>A; p.R1381H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2521C>A; p.R841S; |
breast | carcinoma |
c.741C>T; p.D247D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3327G>A; p.P1109P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3516C>A; p.I1172I; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1459C>T; p.R487C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3322A>G; p.T1108A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.714G>T; p.K238N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2027G>A; p.G676E; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2427G>A; p.T809T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4182C>T; p.D1394D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1651C>A; p.L551I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3776G>A; p.R1259K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2213G>T; p.G738V; |
breast | carcinoma |
c.921C>T; p.F307F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1260C>A; p.F420L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1566C>G; p.L522L; |
urinary_tract; bladder | carcinoma |
c.3920G>C; p.R1307T; |
urinary_tract; bladder | carcinoma |
c.4415T>C; p.F1472S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1657_1662delGTGTAC; p.Y556_V557delYV; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3983G>A; p.G1328D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3680G>T; p.G1227V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3053T>C; p.L1018S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4012C>A; p.R1338S; |
urinary_tract; bladder | carcinoma |
c.2498G>A; p.G833D; |
urinary_tract; bladder | carcinoma |
c.3560C>G; p.P1187R; |
breast | carcinoma |
c.1091C>T; p.S364L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3312C>G; p.I1104M; |
urinary_tract; bladder | carcinoma |
c.3964G>A; p.V1322M; |
urinary_tract; bladder | carcinoma |
c.1973C>A; p.A658D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1423G>A; p.A475T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3949G>C; p.E1317Q; |
prostate | carcinoma; adenocarcinoma |
c.643_657del15; p.L215_F219delLSRLF; |
prostate | carcinoma |
c.401C>T; p.S134L; |
skin | malignant_melanoma |
c.3457G>A; p.E1153K; |
skin | malignant_melanoma |
c.842_843CC>TT; p.S281F; |
skin | malignant_melanoma |
c.2006_2007CC>TT; p.S669F; |
skin | malignant_melanoma |
c.2726C>T; p.A909V; |
skin | malignant_melanoma |
c.4447C>T; p.R1483W; |
skin | malignant_melanoma |
c.1915G>A; p.D639N; |
skin | malignant_melanoma |
c.913G>A; p.A305T; |
skin | malignant_melanoma |
c.2125G>A; p.V709M; |
stomach | adenocarcinoma |