| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 2175 |
Name | FANCA |
Synonymous | FA|FA-H|FA1|FAA|FACA|FAH|FANCH;Fanconi anemia, complementation group A;FANCA;Fanconi anemia, complementation group A |
Definition | Fanconi anemia group A protein|Fanconi anemia, complementation group H|Fanconi anemia, type 1 |
Position | 16q24.3 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
FANCA_Q264_E9splice_region; chr16; 89866055 |
SUB; SPLICE_REGION; A; A/G; GERMLINE | HYPO; PUTATIVE-HQ; |
PCGP somatic mutation [Top] | ||
There is no record for FANCA | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.1762C>T; p.L588F; |
large_intestine | carcinoma; adenocarcinoma |
c.3557G>T; p.R1186M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2723T>C; p.L908P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2422C>T; p.P808S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.480G>T; p.M160I; |
breast | carcinoma; ER-PR-positive_carcinoma |
c.2832T>G; p.D944E; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma |
c.2962C>T; p.L988L; 16:88352505-88352505 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1289C>T; p.A430V; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.3201C>T; p.A1067A; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.1738G>A; p.V580M; |
oesophagus | carcinoma; adenocarcinoma |
c.3480G>C; p.Q1160H; |
oesophagus | carcinoma; adenocarcinoma |
c.2048G>T; p.R683I; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.3114C>T; p.L1038L; |
oesophagus | carcinoma; adenocarcinoma |
c.2795G>T; p.W932L; 16:88355915-88355915 |
breast | carcinoma; ductal_carcinoma |
c.214delT; p.L72fs*6; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4118C>T; p.T1373I; |
lung | carcinoma; adenocarcinoma |
c.1170C>T; p.L390L; |
lung | carcinoma; adenocarcinoma |
c.4051G>C; p.E1351Q; |
lung | carcinoma; adenocarcinoma |
c.2029G>A; p.V677M; |
lung | carcinoma; adenocarcinoma |
c.3231G>A; p.M1077I; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.1756G>A; p.A586T; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.3263C>T; p.S1088F; |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.2722_2723delCT; p.W911fs*31; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.891C>T; p.C297C; 16:88393077-88393077 |
skin | malignant_melanoma |
c.1827-1G>C; p.?; |
breast | carcinoma |
c.2993A>G; p.Y998C; |
liver | carcinoma |
c.3071_3072insT; p.M1024fs*4; |
ovary | carcinoma; serous_carcinoma |
c.3032G>A; p.R1011H; |
lung | carcinoma; adenocarcinoma |
c.3280A>G; p.S1094G; 16:88342636-88342636 |
ovary | carcinoma; serous_carcinoma |
c.3224T>C; p.L1075P; |
lung | carcinoma; squamous_cell_carcinoma |
c.2127G>T; p.P709P; |
lung | carcinoma; squamous_cell_carcinoma |
c.3482C>T; p.T1161M; |
lung | carcinoma; squamous_cell_carcinoma |
c.428A>G; p.K143R; |
ovary | carcinoma; serous_carcinoma |
c.119C>A; p.A40E; |
lung | carcinoma; squamous_cell_carcinoma |
c.960C>G; p.F320L; |
lung | carcinoma; adenocarcinoma |
c.231G>C; p.V77V; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.3343G>A; p.E1115K; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.1498C>G; p.P500A; 16:88376984-88376984 |
ovary | carcinoma; serous_carcinoma |
c.3640G>C; p.E1214Q; |
lung | carcinoma; squamous_cell_carcinoma |
c.2201C>T; p.S734F; |
lung | carcinoma; squamous_cell_carcinoma |
c.3382C>A; p.Q1128K; |
ovary | carcinoma; serous_carcinoma |
c.1014T>C; p.D338D; |
lung | carcinoma; squamous_cell_carcinoma |
c.1146G>T; p.Q382H; |
lung; middle_lobe | carcinoma; adenocarcinoma |
c.2054G>A; p.R685K; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2410G>A; p.G804S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.502C>G; p.Q168E; |
breast | carcinoma |
c.3250C>T; p.R1084C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.488G>A; p.R163H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3754G>A; p.E1252K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2520A>G; p.A840A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.797C>T; p.T266M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.643_644delTG; p.C215fs*4; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1498C>T; p.P500S; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.136T>C; p.S46P; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1428C>G; p.F476L; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.3157C>T; p.R1053C; |
breast | carcinoma |
c.2846C>A; p.T949N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2590C>A; p.L864I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.690C>T; p.V230V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2749C>T; p.R917*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.151C>A; p.L51M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3631C>A; p.L1211I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3250C>T; p.R1084C; |
breast | carcinoma |
c.553C>A; p.L185I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3116G>A; p.G1039D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1265G>A; p.C422Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3483G>A; p.T1161T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.343G>C; p.G115R; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1262G>A; p.S421N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1847C>A; p.S616Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2314delC; p.Q772fs*5; |
breast | carcinoma |
c.2890C>T; p.L964F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3959_3961delTCC; p.L1320delL; |
breast | carcinoma |
c.3630C>T; p.F1210F; |
breast | carcinoma |
c.3043G>A; p.E1015K; |
breast | carcinoma |
c.3007A>C; p.N1003H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2977C>T; p.Q993*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1331C>T; p.A444V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.976C>T; p.Q326*; |
urinary_tract; bladder | carcinoma |
c.759G>C; p.L253L; |
urinary_tract; bladder | carcinoma |
c.2915delG; p.G972fs*17; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1984G>A; p.A662T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1806G>A; p.A602A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2795G>T; p.W932L; 16:88355915-88355915 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2662G>A; p.V888I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3610C>T; p.R1204W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3482C>T; p.T1161M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.155G>T; p.R52L; |
breast | carcinoma |
c.4201C>G; p.L1401V; |
urinary_tract; bladder | carcinoma |
c.3791C>A; p.S1264Y; |
urinary_tract; bladder | carcinoma |
c.140C>T; p.A47V; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2426G>A; p.G809D; |
breast | carcinoma |
c.1305C>G; p.R435R; |
urinary_tract; bladder | carcinoma |
c.3406A>G; p.R1136G; |
prostate | carcinoma; adenocarcinoma |
c.3462C>T; p.F1154F; |
urinary_tract; bladder | carcinoma |
c.1364C>T; p.S455F; |
skin | malignant_melanoma |
c.1038G>T; p.W346C; |
skin | malignant_melanoma |
c.1700C>T; p.T567I; |
skin; face | carcinoma; squamous_cell_carcinoma |
c.3900A>G; p.I1300M; |
stomach | adenocarcinoma |