| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 2177 |
Name | FANCD2 |
Synonymous | FA-D2|FA4|FACD|FAD|FAD2|FANCD;Fanconi anemia, complementation group D2;FANCD2;Fanconi anemia, complementation group D2 |
Definition | Fanconi anemia group D2 protein |
Position | 3p26 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for FANCD2 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
FANCD2_Q802H; chr3; 10108913 |
SUB; MISSENSE; G; G/T; SOMATIC | RHB; VALID; WGS |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.3581A>G; p.E1194G; |
liver | carcinoma; hepatocellular_carcinoma |
c.2035C>T; p.P679S; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.2168+1G>T; p.?; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.2168+1G>T; p.?; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.2592G>T; p.K864N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3031G>T; p.E1011*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1263C>A; p.F421L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3373A>G; p.I1125V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3817C>T; p.R1273*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2335C>T; p.R779C; |
pancreas | carcinoma |
c.2769_2770insT; p.R926fs*6; |
pancreas | carcinoma; acinar_carcinoma |
c.2774_2775insT; p.R926fs*6; 3:10091272-10091273 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.2774_2775insT; p.R926fs*6; 3:10091272-10091273 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1368C>G; p.L456L; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.167G>T; p.G56V; |
breast | carcinoma; ductal_carcinoma |
c.3446C>T; p.A1149V; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.2942C>T; p.T981I; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.311T>C; p.I104T; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.2801C>G; p.S934C; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.3895C>T; p.R1299C; |
oesophagus | carcinoma; adenocarcinoma |
c.4129C>T; p.L1377F; |
oesophagus | carcinoma; adenocarcinoma |
c.1222C>T; p.R408*; |
oesophagus | carcinoma; adenocarcinoma |
c.3223T>C; p.W1075R; |
oesophagus | carcinoma; adenocarcinoma |
c.2725G>T; p.G909W; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.289G>A; p.V97I; |
lung | carcinoma; squamous_cell_carcinoma |
c.2938C>G; p.L980V; |
liver | carcinoma |
c.3818G>A; p.R1273Q; |
large_intestine; colon | carcinoma |
c.4023G>C; p.L1341L; |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma |
c.1608C>T; p.L536L; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.1696A>G; p.T566A; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.1589G>A; p.R530Q; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2169-8C>T; p.?; |
skin; trunk | malignant_melanoma; nodular |
c.1618G>C; p.A540P; |
lung | carcinoma; adenocarcinoma |
c.4349G>A; p.W1450*; |
lung | carcinoma; adenocarcinoma |
c.157A>C; p.K53Q; |
lung | carcinoma; adenocarcinoma |
c.2355C>G; p.L785L; |
lung | carcinoma; adenocarcinoma |
c.42G>C; p.E14D; |
lung | carcinoma; adenocarcinoma |
c.3834C>T; p.L1278L; |
lung | carcinoma; adenocarcinoma |
c.1161C>A; p.I387I; |
lung | carcinoma; adenocarcinoma |
c.1932G>A; p.L644L; |
NS | NS |
c.3962G>A; p.R1321Q; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.2623G>A; p.D875N; |
skin; trunk | malignant_melanoma |
c.3031G>A; p.E1011K; |
skin; trunk | malignant_melanoma |
c.3367C>T; p.Q1123*; 3:10103849-10103849 |
skin | malignant_melanoma |
c.1770T>G; p.S590R; |
breast | carcinoma; ductal_carcinoma |
c.3124C>T; p.H1042Y; |
breast | carcinoma |
c.3252G>A; p.Q1084Q; |
breast | carcinoma |
c.957C>T; p.S319S; |
liver | carcinoma |
c.2180C>T; p.P727L; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.3494G>A; p.R1165Q; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.958C>A; p.Q320K; |
autonomic_ganglia | neuroblastoma |
c.1948G>T; p.E650*; 3:10081040-10081040 |
ovary | carcinoma; serous_carcinoma |
c.2004C>T; p.S668S; |
lung | carcinoma; adenocarcinoma |
c.4309G>T; p.G1437C; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1799C>G; p.A600G; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2097C>T; p.L699L; |
lung | carcinoma; adenocarcinoma |
c.1932G>T; p.L644L; |
lung | carcinoma; adenocarcinoma |
c.3926G>T; p.C1309F; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1278+1delg; p.?; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1278+1delg; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1278+1delg; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1759G>A; p.A587T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1949A>G; p.E650G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3369A>G; p.Q1123Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2053G>A; p.G685R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1275C>T; p.Y425Y; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3860G>T; p.S1287I; |
large_intestine; colon | NS |
c.3895C>T; p.R1299C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.355C>T; p.R119C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1778C>T; p.P593L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3817C>T; p.R1273*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.436C>T; p.Q146*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1278+1delg; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.906G>A; p.R302R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1278+1delg; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.583A>G; p.K195E; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.283G>T; p.E95*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1565A>G; p.D522G; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2693C>A; p.S898Y; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.3040C>A; p.H1014N; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.813G>T; p.S271S; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1588C>T; p.R530*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3165C>T; p.Y1055Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3871C>A; p.L1291M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1015G>A; p.G339S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1294T>C; p.C432R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4118C>A; p.A1373D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2454C>T; p.H818H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1278+1delg; p.?; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1278+1delg; p.?; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3368A>G; p.Q1123R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1278+1delg; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1188G>T; p.K396N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2826G>A; p.T942T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1035C>T; p.L345L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2104C>T; p.L702L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2192C>T; p.A731V; |
breast | carcinoma |
c.813G>A; p.S271S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3628G>T; p.E1210*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2609G>A; p.R870K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3987A>G; p.E1329E; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1489C>G; p.L497V; |
urinary_tract; bladder | carcinoma |
c.1298C>T; p.S433L; |
urinary_tract; bladder | carcinoma |
c.1318C>T; p.Q440*; |
breast | carcinoma |
c.2406G>T; p.Q802H; |
prostate | carcinoma; adenocarcinoma |
c.2406G>T; p.Q802H; |
prostate | carcinoma; adenocarcinoma |
c.2391A>G; p.V797V; |
prostate | carcinoma; adenocarcinoma |
c.3368A>G; p.Q1123R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1129C>T; p.H377Y; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1278+1delg; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1278+1delg; p.?; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1278+1delg; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4052C>T; p.T1351M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2203C>T; p.R735W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.688G>T; p.E230*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2045C>T; p.A682V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1278+1delg; p.?; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1948G>T; p.E650*; 3:10081040-10081040 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1278+1delg; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1278+1delg; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1278+1delg; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2096T>C; p.L699P; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.429C>T; p.D143D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.481T>G; p.F161V; |
urinary_tract; bladder | carcinoma |
c.14G>C; p.R5T; |
urinary_tract; bladder | carcinoma |
c.3333C>T; p.L1111L; |
urinary_tract; bladder | carcinoma |
c.2257G>A; p.D753N; |
urinary_tract; bladder | carcinoma |
c.1278+1delg; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1278+1delg; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1278+1delg; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3369A>G; p.Q1123Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2296G>T; p.E766*; |
breast | carcinoma |
c.2095C>T; p.L699F; |
breast | carcinoma |
c.3400C>G; p.L1134V; |
breast | carcinoma |
c.1278+1delg; p.?; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1278+1delg; p.?; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1596C>G; p.L532L; |
urinary_tract; bladder | carcinoma |
c.3738_3739insA; p.I1249fs*2; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1278+1delg; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2665delA; p.N890fs*14; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3376C>T; p.P1126S; |
skin | malignant_melanoma |
c.1153C>T; p.L385F; |
skin | malignant_melanoma |
c.2516C>T; p.P839L; |
skin | malignant_melanoma |
c.879T>C; p.D293D; |
stomach | adenocarcinoma |