| Gene ID | 3455 |
| Symbol | IFNAR2 |
| Synonymous | IFN-R|IFN-alpha-REC|IFNABR|IFNARB |
| Full name | interferon (alpha, beta and omega) receptor 2 |
| Gene description | IFN-R-2|IFN-alpha/beta receptor 2|human interferon alpha/beta receptor|interferon alpha binding protein|interferon alpha/beta receptor 2|interferon-alpha/beta receptor beta chain|type I interferon receptor 2 |
| Cytoband | 21q22.11 |
| Gene type | protein-coding |
| Synonymous | MIM:602376; HGNC:HGNC:5433; Ensembl:ENSG00000159110; HPRD:03850; Vega:OTTHUMG00000065127 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1516G>A; p.V506I; 21:33263468-33263468 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.772A>G; p.T258A; 21:33260659-33260659 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.364T>C; p.C122R; 21:33246860-33246860 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.850A>T; p.N284Y; 21:33262802-33262802 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.456G>T; p.V152V; 21:33248770-33248770 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.806A>G; p.Y269C; 21:33260693-33260693 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.1376C>A; p.P459Q; 21:33263328-33263328 |
skin | malignant_melanoma | Substitution - Missense |
c.1342A>C; p.M448L; 21:33263294-33263294 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1257C>A; p.G419G; 21:33263209-33263209 |
oesophagus | carcinoma | Substitution - coding silent |
c.577T>G; p.F193V; 21:33252698-33252698 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1066G>C; p.E356Q; 21:33263018-33263018 |
ovary | other; neoplasm | Substitution - Missense |
c.1324G>A; p.D442N; 21:33263276-33263276 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.628G>T; p.V210F; 21:33252749-33252749 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1067A>G; p.E356G; 21:33263019-33263019 |
pancreas | carcinoma | Substitution - Missense |
c.971G>T; p.S324I; 21:33262923-33262923 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.917A>C; p.Y306S; 21:33262869-33262869 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.398C>G; p.S133C; 21:33248712-33248712 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.423T>A; p.I141I; 21:33248737-33248737 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - coding silent |
c.1548A>G; p.*516W; 21:33263500-33263500 |
endometrium | carcinoma; endometrioid_carcinoma | Nonstop extension |
c.1548A>G; p.*516W; 21:33263500-33263500 |
endometrium | carcinoma; endometrioid_carcinoma | Nonstop extension |
c.143T>A; p.F48Y; 21:33244996-33244996 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.846T>C; p.F282F; 21:33262798-33262798 |
skin | malignant_melanoma | Substitution - coding silent |
c.93G>A; p.S31S; 21:33243710-33243710 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.588C>G; p.I196M; 21:33252709-33252709 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.126G>T; p.K42N; 21:33244979-33244979 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.315C>T; p.A105A; 21:33246811-33246811 |
skin | malignant_melanoma | Substitution - coding silent |
c.1315G>A; p.D439N; 21:33263267-33263267 |
breast | carcinoma | Substitution - Missense |
c.1315G>A; p.D439N; 21:33263267-33263267 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.137G>A; p.R46Q; 21:33244990-33244990 |
peritoneum; appendix | other; pseudomyxoma_peritonei | Substitution - Missense |
c.137G>A; p.R46Q; 21:33244990-33244990 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.28T>G; p.F10V; 21:33241950-33241950 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.28T>G; p.F10V; 21:33241950-33241950 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.28T>G; p.F10V; 21:33241950-33241950 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.285C>T; p.L95L; 21:33246781-33246781 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1052C>T; p.S351F; 21:33263004-33263004 |
skin | malignant_melanoma | Substitution - Missense |
c.167_168insA; p.N58fs*18; 21:33245020-33245021 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.386C>T; p.A129V; 21:33246882-33246882 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.23T>C; p.F8S; 21:33241945-33241945 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.942G>A; p.W314*; 21:33262894-33262894 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1312G>A; p.E438K; 21:33263264-33263264 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1312G>A; p.E438K; 21:33263264-33263264 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1312G>A; p.E438K; 21:33263264-33263264 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.493G>C; p.D165H; 21:33248807-33248807 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.240G>A; p.K80K; 21:33246736-33246736 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.781A>T; p.I261L; 21:33260668-33260668 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.353C>T; p.T118M; 21:33246849-33246849 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.909G>T; p.E303D; 21:33262861-33262861 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1420G>A; p.G474R; 21:33263372-33263372 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.1420G>A; p.G474R; 21:33263372-33263372 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1363G>A; p.E455K; 21:33263315-33263315 |
skin | malignant_melanoma | Substitution - Missense |
c.465A>T; p.P155P; 21:33248779-33248779 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.504C>T; p.L168L; 21:33248818-33248818 |
skin | malignant_melanoma | Substitution - coding silent |
c.768C>A; p.V256V; 21:33260655-33260655 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.768C>A; p.V256V; 21:33260655-33260655 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.668C>T; p.S223F; 21:33252789-33252789 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1544G>A; p.R515K; 21:33263496-33263496 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.344G>A; p.G115E; 21:33246840-33246840 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.302G>A; p.S101N; 21:33246798-33246798 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1238_1239CC>TT; p.S413F; 21:33263190-33263191 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1286C>T; p.S429F; 21:33263238-33263238 |
skin | malignant_melanoma | Substitution - Missense |
c.341G>A; p.S114N; 21:33246837-33246837 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1470G>A; p.W490*; 21:33263422-33263422 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1349C>T; p.S450L; 21:33263301-33263301 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1349C>T; p.S450L; 21:33263301-33263301 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1225G>C; p.E409Q; 21:33263177-33263177 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.930G>C; p.K310N; 21:33262882-33262882 |
thyroid | carcinoma | Substitution - Missense |
c.1003G>A; p.G335S; 21:33262955-33262955 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.693A>C; p.P231P; 21:33252814-33252814 |
breast | carcinoma | Substitution - coding silent |
c.216C>T; p.I72I; 21:33245069-33245069 |
skin | malignant_melanoma | Substitution - coding silent |
c.780C>G; p.T260T; 21:33260667-33260667 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.597G>A; p.K199K; 21:33252718-33252718 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.1242G>A; p.T414T; 21:33263194-33263194 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1432C>T; p.Q478*; 21:33263384-33263384 |
breast | carcinoma | Substitution - Nonsense |
c.847C>T; p.H283Y; 21:33262799-33262799 |
skin | malignant_melanoma | Substitution - Missense |
c.841-1G>A; p.?; 21:33262792-33262792 |
prostate | carcinoma; adenocarcinoma | Unknown |
c.1022_1025delGACT; p.T343fs*16; 21:33262974-33262977 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.261T>A; p.N87K; 21:33246757-33246757 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.762A>G; p.A254A; 21:33260649-33260649 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1271A>T; p.N424I; 21:33263223-33263223 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.132A>G; p.S44S; 21:33244985-33244985 |
breast | carcinoma | Substitution - coding silent |
c.1398A>G; p.Q466Q; 21:33263350-33263350 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.841-4T>A; p.?; 21:33262789-33262789 |
liver | carcinoma | Unknown |
c.464C>T; p.P155L; 21:33248778-33248778 |
skin | malignant_melanoma | Substitution - Missense |
c.1333G>A; p.A445T; 21:33263285-33263285 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.204G>A; p.L68L; 21:33245057-33245057 |
pancreas | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.1137G>A; p.T379T; 21:33263089-33263089 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1105G>A; p.D369N; 21:33263057-33263057 |
pancreas | carcinoma | Substitution - Missense |