| Gene ID | 408 |
| Symbol | ARRB1 |
| Synonymous | ARB1|ARR1 |
| Full name | arrestin, beta 1 |
| Gene description | arrestin 2|beta-arrestin-1 |
| Cytoband | 11q13 |
| Gene type | protein-coding |
| Synonymous | MIM:107940; HGNC:HGNC:711; Ensembl:ENSG00000137486; HPRD:00146; Vega:OTTHUMG00000165444 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.449delG; p.C150fs*50; 11:75281108-75281108 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.58G>A; p.V20I; 11:75287369-75287369 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.770_776+1delAGGCTGAG; p.?; 11:75276838-75276845 |
skin; chest | malignant_melanoma | Unknown |
c.58G>A; p.V20I; 11:75287369-75287369 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.58G>A; p.V20I; 11:75287369-75287369 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.1180G>A; p.D394N; 11:75266216-75266216 |
pancreas | carcinoma | Substitution - Missense |
c.998+7G>A; p.?; 11:75272888-75272888 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.226C>T; p.R76C; 11:75283415-75283415 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.311T>C; p.L104P; 11:75283330-75283330 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.227G>A; p.R76H; 11:75283414-75283414 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1038C>T; p.P346P; 11:75268920-75268920 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.925G>A; p.G309S; 11:75272968-75272968 |
skin; neck | malignant_melanoma | Substitution - Missense |
c.975G>A; p.V325V; 11:75272918-75272918 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.774T>G; p.A258A; 11:75276841-75276841 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.257C>T; p.S86L; 11:75283384-75283384 |
skin | malignant_melanoma | Substitution - Missense |
c.861C>T; p.L287L; 11:75274127-75274127 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.170T>C; p.L57P; 11:75283471-75283471 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1008C>T; p.A336A; 11:75268950-75268950 |
skin | malignant_melanoma | Substitution - coding silent |
c.1059G>A; p.P353P; 11:75268899-75268899 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1073C>T; p.P358L; 11:75267700-75267700 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1073C>T; p.P358L; 11:75267700-75267700 |
lung | carcinoma; bronchioloalveolar_adenocarcinoma | Substitution - Missense |
c.1173G>T; p.M391I; 11:75266223-75266223 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1127A>T; p.D376V; 11:75266269-75266269 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.354+8A>G; p.?; 11:75283279-75283279 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Unknown |
c.421G>A; p.G141S; 11:75281136-75281136 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1085C>G; p.T362R; 11:75267688-75267688 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1085C>G; p.T362R; 11:75267688-75267688 |
breast | carcinoma; HER-positive_carcinoma | Substitution - Missense |
c.392C>T; p.P131L; 11:75281984-75281984 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.470_472delAGA; p.K157delK; 11:75281085-75281087 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - In frame |
c.874A>C; p.K292Q; 11:75274114-75274114 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1185G>T; p.K395N; 11:75266211-75266211 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.973delG; p.V325fs*1; 11:75272920-75272920 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1153C>T; p.R385C; 11:75266243-75266243 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.693C>G; p.I231M; 11:75277374-75277374 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.800C>T; p.T267M; 11:75274188-75274188 |
ovary | carcinoma | Substitution - Missense |
c.680C>T; p.T227M; 11:75277387-75277387 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.820C>T; p.L274L; 11:75274168-75274168 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.639C>T; p.P213P; 11:75277428-75277428 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.403G>A; p.D135N; 11:75281973-75281973 |
skin | malignant_melanoma | Substitution - Missense |
c.1086G>A; p.T362T; 11:75267687-75267687 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.231G>A; p.K77K; 11:75283410-75283410 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1085C>T; p.T362M; 11:75267688-75267688 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.152G>A; p.R51Q; 11:75284240-75284240 |
bone; pelvis | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.184C>T; p.R62C; 11:75283457-75283457 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.517T>C; p.Y173H; 11:75278710-75278710 |
liver | carcinoma | Substitution - Missense |
c.517T>C; p.Y173H; 11:75278710-75278710 |
liver | carcinoma | Substitution - Missense |
c.1048G>A; p.E350K; 11:75268910-75268910 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.393G>A; p.P131P; 11:75281983-75281983 |
kidney | other; neoplasm | Substitution - coding silent |
c.1056C>A; p.P352P; 11:75268902-75268902 |
liver | carcinoma | Substitution - coding silent |
c.854G>A; p.R285Q; 11:75274134-75274134 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1056C>A; p.P352P; 11:75268902-75268902 |
liver | carcinoma | Substitution - coding silent |
c.893C>T; p.T298M; 11:75274095-75274095 |
breast | carcinoma; ER-PR-positive_carcinoma | Substitution - Missense |
c.189T>C; p.Y63Y; 11:75283452-75283452 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - coding silent |
c.982G>T; p.V328L; 11:75272911-75272911 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.409G>A; p.G137R; 11:75281967-75281967 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.909C>T; p.S303S; 11:75274079-75274079 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.142C>T; p.L48F; 11:75284250-75284250 |
breast | carcinoma | Substitution - Missense |
c.935G>A; p.R312H; 11:75272958-75272958 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.188A>G; p.Y63C; 11:75283453-75283453 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1063C>T; p.R355W; 11:75268895-75268895 |
thyroid | carcinoma | Substitution - Missense |
c.1057C>T; p.P353S; 11:75268901-75268901 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1058C>T; p.P353L; 11:75268900-75268900 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.973G>A; p.V325M; 11:75272920-75272920 |
skin | malignant_melanoma | Substitution - Missense |
c.1002C>T; p.D334D; 11:75268956-75268956 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1002C>T; p.D334D; 11:75268956-75268956 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1161A>C; p.R387S; 11:75266235-75266235 |
thyroid | other; neoplasm | Substitution - Missense |
c.436G>A; p.V146I; 11:75281121-75281121 |
ovary | other; neoplasm | Substitution - Missense |
c.942C>T; p.I314I; 11:75272951-75272951 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.493C>T; p.R165C; 11:75278734-75278734 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.681G>A; p.T227T; 11:75277386-75277386 |
pituitary; craniopharyngeal_duct | craniopharyngioma; adamantinomatous | Substitution - coding silent |
c.959C>A; p.S320Y; 11:75272934-75272934 |
central_nervous_system; brainstem | glioma; oligoastrocytoma_Grade_III | Substitution - Missense |