| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 178 |
Name | AGL |
Synonymous | GDE;amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase;AGL;amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase |
Definition | amylo-1, 6-glucosidase, 4-alpha-glucanotransferase|glycogen debrancher|glycogen debranching enzyme |
Position | 1p21 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for AGL | ||
PCGP somatic mutation [Top] | ||
There is no record for AGL | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.186C>T; p.F62F; |
skin; upper_back | malignant_melanoma |
c.101G>A; p.R34Q; |
lung | carcinoma; small_cell_carcinoma |
c.200G>T; p.W67L; |
lung | carcinoma; small_cell_carcinoma |
c.3175C>A; p.L1059I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.628G>A; p.V210I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3289C>T; p.R1097C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1465G>A; p.D489N; 1:100115826-100115826 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1283+1G>A; p.?; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.188G>A; p.R63H; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.3544A>G; p.M1182V; |
skin; upper_arm | malignant_melanoma |
c.623G>T; p.W208L; |
lung | carcinoma; adenocarcinoma |
c.1966A>C; p.S656R; |
oesophagus | carcinoma; adenocarcinoma |
c.2056C>T; p.P686S; |
oesophagus | carcinoma; adenocarcinoma |
c.886C>T; p.L296F; |
oesophagus | carcinoma; adenocarcinoma |
c.4460G>A; p.R1487Q; |
oesophagus | carcinoma; adenocarcinoma |
c.3903_3904insA; p.N1304fs*7; |
oesophagus | carcinoma; adenocarcinoma |
c.1736A>T; p.E579V; |
oesophagus | carcinoma; squamous_cell_carcinoma |
c.2930G>A; p.R977Q; |
lung | carcinoma; small_cell_carcinoma |
c.3308C>T; p.T1103I; |
large_intestine; colon | carcinoma |
c.1341T>C; p.H447H; |
liver | carcinoma |
c.3887G>T; p.W1296L; |
lung | carcinoma; adenocarcinoma |
c.4230T>A; p.G1410G; |
lung | carcinoma; adenocarcinoma |
c.2440G>A; p.E814K; |
lung | carcinoma; adenocarcinoma |
c.1586A>T; p.H529L; |
lung | carcinoma; adenocarcinoma |
c.767G>T; p.R256L; |
lung | carcinoma; adenocarcinoma |
c.2128C>T; p.Q710*; |
lung | carcinoma; adenocarcinoma |
c.3885C>T; p.R1295R; |
lung | carcinoma; adenocarcinoma |
c.688G>A; p.E230K; |
lung | carcinoma; adenocarcinoma |
c.4124A>G; p.Y1375C; |
lung | carcinoma; adenocarcinoma |
c.223G>A; p.D75N; |
lung | carcinoma; adenocarcinoma |
c.454G>C; p.E152Q; |
lung | carcinoma; adenocarcinoma |
c.337T>G; p.L113V; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia |
c.337T>G; p.L113V; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia |
c.337T>G; p.L113V; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.986C>T; p.P329L; |
NS | malignant_melanoma |
c.997C>T; p.L333F; |
skin; extremity | malignant_melanoma |
c.1383G>T; p.W461C; |
pancreas | carcinoma; ductal_carcinoma |
c.2880G>C; p.L960F; |
breast | carcinoma |
c.2815T>G; p.L939V; |
prostate | carcinoma |
c.1972A>G; p.R658G; |
liver | carcinoma |
c.1505G>C; p.C502S; |
lung | carcinoma; small_cell_carcinoma |
c.2917C>T; p.R973W; |
endometrium | carcinoma; serous_carcinoma |
c.2317G>A; p.E773K; 1:100122272-100122272 |
ovary | carcinoma; serous_carcinoma |
c.2612G>T; p.S871I; |
lung | carcinoma; squamous_cell_carcinoma |
c.1769G>C; p.G590A; |
lung | carcinoma; squamous_cell_carcinoma |
c.226G>A; p.D76N; |
lung | carcinoma; squamous_cell_carcinoma |
c.3486G>T; p.Q1162H; |
lung | carcinoma; squamous_cell_carcinoma |
c.1164C>G; p.L388L; |
lung | carcinoma; adenocarcinoma |
c.3614A>G; p.Q1205R; |
lung | carcinoma; squamous_cell_carcinoma |
c.3044A>G; p.Y1015C; |
lung | carcinoma; squamous_cell_carcinoma |
c.790G>T; p.G264W; |
lung | carcinoma; adenocarcinoma |
c.2847G>T; p.K949N; |
lung | carcinoma; adenocarcinoma |
c.2115C>A; p.I705I; |
lung | carcinoma; adenocarcinoma |
c.2006C>T; p.S669L; |
lung | carcinoma; adenocarcinoma |
c.4404G>T; p.L1468F; |
lung | carcinoma; adenocarcinoma |
c.2100A>T; p.A700A; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.1560C>T; p.F520F; |
lung | carcinoma; adenocarcinoma |
c.3250C>G; p.L1084V; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.3616G>A; p.E1206K; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.4131C>T; p.L1377L; |
lung | carcinoma; squamous_cell_carcinoma |
c.2001+1G>C; p.?; |
ovary | carcinoma; serous_carcinoma |
c.1643C>T; p.P548L; |
lung | carcinoma; adenocarcinoma |
c.232G>A; p.D78N; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.2680T>G; p.S894A; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.50A>T; p.K17I; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.526G>C; p.A176P; |
breast | carcinoma |
c.3682C>G; p.R1228G; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.3383C>T; p.A1128V; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2319A>G; p.E773E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3903_3904insA; p.N1304fs*7; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.187C>T; p.R63C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1725C>A; p.S575S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2373G>T; p.K791N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2554C>A; p.L852I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3757C>T; p.R1253C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.454G>T; p.E152*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2089G>A; p.G697S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3904delA; p.N1304fs*10; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.316T>A; p.Y106N; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4214A>G; p.E1405G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1466A>G; p.D489G; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1466A>G; p.D489G; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.4460G>A; p.R1487Q; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.4026C>T; p.S1342S; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.3588+1G>A; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1327G>T; p.E443*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3346C>T; p.R1116C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.967C>T; p.R323*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3826G>T; p.A1276S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.494C>T; p.T165I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2868T>G; p.F956L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2546+2T>C; p.?; |
breast | carcinoma |
c.1874C>T; p.T625M; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2506G>T; p.E836*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2158-1G>T; p.?; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1130G>T; p.R377I; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.967C>T; p.R323*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2319A>G; p.E773E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3843G>C; p.G1281G; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1893T>C; p.P631P; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.4316T>C; p.L1439P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4092T>C; p.D1364D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.18G>T; p.Q6H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3533C>T; p.P1178L; |
breast | carcinoma |
c.794A>T; p.K265I; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2564A>G; p.H855R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.968G>T; p.R323L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2929C>T; p.R977*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3794delA; p.S1266fs*24; |
breast | carcinoma |
c.1874C>A; p.T625K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1836A>C; p.L612F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.846+2T>C; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3581G>A; p.G1194D; |
urinary_tract; bladder | carcinoma |
c.271T>C; p.F91L; |
prostate | carcinoma; adenocarcinoma |
c.2319A>G; p.E773E; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1467C>T; p.D489D; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2319A>G; p.E773E; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2319A>G; p.E773E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.503T>C; p.L168P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2681C>T; p.S894F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1668G>T; p.L556L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3903_3904insA; p.N1304fs*7; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1466A>G; p.D489G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3955G>C; p.A1319P; |
urinary_tract; bladder | carcinoma |
c.2347G>C; p.E783Q; |
urinary_tract; bladder | carcinoma |
c.263C>A; p.S88Y; |
urinary_tract; bladder | carcinoma |
c.1219G>A; p.E407K; |
cervix | carcinoma; squamous_cell_carcinoma |
c.1466A>G; p.D489G; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.4579G>C; p.E1527Q; |
urinary_tract; bladder | carcinoma |
c.3781G>A; p.D1261N; |
prostate | carcinoma |
c.1735+3A>T; p.?; |
prostate | carcinoma |
c.1996C>T; p.H666Y; |
skin | malignant_melanoma |
c.208C>T; p.P70S; |
skin | malignant_melanoma |
c.416C>T; p.P139L; |
skin; scalp | malignant_melanoma |
c.3297G>A; p.W1099*; |
skin | malignant_melanoma |
c.1564_1565GG>AA; p.G522K; |
skin; face | carcinoma; squamous_cell_carcinoma |
c.3082A>G; p.S1028G; |
stomach | adenocarcinoma |