| Gene ID | 5610 |
| Symbol | EIF2AK2 |
| Synonymous | EIF2AK1|PKR|PPP1R83|PRKR |
| Full name | eukaryotic translation initiation factor 2-alpha kinase 2 |
| Gene description | P1/eIF-2A protein kinase|double stranded RNA activated protein kinase|eIF-2A protein kinase 2|interferon-induced, double-stranded RNA-activated protein kinase|interferon-inducible elF2alpha kinase|p68 kinase|protein kinase R|protein kinase, interferon-ind |
| Cytoband | 2p22-p21 |
| Gene type | protein-coding |
| Synonymous | MIM:176871; HGNC:HGNC:9437; Ensembl:ENSG00000055332; HPRD:01468 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.151G>T; p.E51*; 2:37146942-37146942 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.470C>T; p.A157V; 2:37139677-37139677 |
skin | malignant_melanoma | Substitution - Missense |
c.151G>T; p.E51*; 2:37146942-37146942 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.417G>A; p.Q139Q; 2:37139730-37139730 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.846delC; p.F282fs*28; 2:37126351-37126351 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1214T>C; p.I405T; 2:37119993-37119993 |
breast | carcinoma | Substitution - Missense |
c.1214T>C; p.I405T; 2:37119993-37119993 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.763A>G; p.T255A; 2:37135506-37135506 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1131G>C; p.W377C; 2:37120076-37120076 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1591G>A; p.E531K; 2:37107338-37107338 |
thyroid | carcinoma | Substitution - Missense |
c.672T>G; p.S224R; 2:37138285-37138285 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.270G>A; p.T90T; 2:37141672-37141672 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1090A>G; p.I364V; 2:37120117-37120117 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.65G>A; p.G22E; 2:37147742-37147742 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1589C>A; p.S530Y; 2:37107340-37107340 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.708A>G; p.Q236Q; 2:37136997-37136997 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1282G>A; p.V428I; 2:37114826-37114826 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.534C>T; p.S178S; 2:37138568-37138568 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.465A>C; p.Q155H; 2:37139682-37139682 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1083C>T; p.C361C; 2:37120124-37120124 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.5C>A; p.A2D; 2:37147802-37147802 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.594-1G>C; p.?; 2:37138364-37138364 |
breast | carcinoma; lobular_carcinoma | Unknown |
c.919C>T; p.R307C; 2:37122654-37122654 |
pancreas | NS | Substitution - Missense |
c.1509C>G; p.I503M; 2:37107498-37107498 |
liver | carcinoma | Substitution - Missense |
c.837C>T; p.G279G; 2:37126360-37126360 |
skin | malignant_melanoma | Substitution - coding silent |
c.734C>T; p.P245L; 2:37135535-37135535 |
skin | malignant_melanoma | Substitution - Missense |
c.5C>G; p.A2G; 2:37147802-37147802 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1315C>G; p.L439V; 2:37114793-37114793 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.1315C>G; p.L439V; 2:37114793-37114793 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.1315C>G; p.L439V; 2:37114793-37114793 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.1315C>G; p.L439V; 2:37114793-37114793 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.915G>A; p.A305A; 2:37122658-37122658 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.194delA; p.N65fs*6; 2:37146899-37146899 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1531G>T; p.E511*; 2:37107476-37107476 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1484delT; p.F495fs*39; 2:37107523-37107523 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1653T>C; p.C551C; 2:37107276-37107276 |
skin | malignant_melanoma | Substitution - coding silent |
c.1343G>A; p.S448N; 2:37114765-37114765 |
stomach | adenocarcinoma | Substitution - Missense |
c.1501G>T; p.G501C; 2:37107506-37107506 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.838C>T; p.Q280*; 2:37126359-37126359 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.1416C>T; p.Y472Y; 2:37109257-37109257 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1512A>G; p.S504S; 2:37107495-37107495 |
liver | carcinoma | Substitution - coding silent |
c.1417G>A; p.A473T; 2:37109256-37109256 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.217G>C; p.E73Q; 2:37146876-37146876 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.229A>T; p.K77*; 2:37146864-37146864 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.788T>C; p.F263S; 2:37126409-37126409 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.786-2A>G; p.?; 2:37126413-37126413 |
autonomic_ganglia | neuroblastoma | Unknown |
c.835G>C; p.G279R; 2:37126362-37126362 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1630G>T; p.E544*; 2:37107299-37107299 |
thyroid | other; neoplasm | Substitution - Nonsense |
c.835G>C; p.G279R; 2:37126362-37126362 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.1249-6delT; p.?; 2:37114865-37114865 |
skin | malignant_melanoma | Unknown |
c.613G>A; p.E205K; 2:37138344-37138344 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.1534-1G>A; p.?; 2:37107396-37107396 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.415C>T; p.Q139*; 2:37139732-37139732 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.30C>G; p.F10L; 2:37147777-37147777 |
breast | carcinoma | Substitution - Missense |
c.880G>A; p.V294I; 2:37126317-37126317 |
pancreas | carcinoma | Substitution - Missense |
c.722+3G>T; p.?; 2:37136980-37136980 |
kidney | other; neoplasm | Unknown |
c.160G>A; p.E54K; 2:37146933-37146933 |
breast | carcinoma | Substitution - Missense |
c.34G>C; p.E12Q; 2:37147773-37147773 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.309C>G; p.G103G; 2:37141633-37141633 |
liver | carcinoma | Substitution - coding silent |
c.21A>T; p.A7A; 2:37147786-37147786 |
liver | carcinoma | Substitution - coding silent |
c.21A>T; p.A7A; 2:37147786-37147786 |
liver | carcinoma | Substitution - coding silent |
c.328C>G; p.Q110E; 2:37141614-37141614 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.873G>T; p.K291N; 2:37126324-37126324 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.930A>G; p.K310K; 2:37122643-37122643 |
skin | malignant_melanoma | Substitution - coding silent |
c.369G>A; p.S123S; 2:37141573-37141573 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.237G>T; p.K79N; 2:37146856-37146856 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1446T>G; p.L482L; 2:37109227-37109227 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.67G>A; p.V23I; 2:37147740-37147740 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.333G>T; p.K111N; 2:37141609-37141609 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1074G>T; p.K358N; 2:37120133-37120133 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.915_916GG>TT; p.E306*; 2:37122657-37122658 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.925G>C; p.V309L; 2:37122648-37122648 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.195_196insA; p.A66fs*8; 2:37146897-37146898 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.553A>G; p.T185A; 2:37138549-37138549 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.776T>C; p.V259A; 2:37135493-37135493 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.906C>G; p.N302K; 2:37126291-37126291 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1316T>C; p.L439P; 2:37114792-37114792 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.717A>C; p.A239A; 2:37136988-37136988 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.282A>G; p.E94E; 2:37141660-37141660 |
ovary | other; neoplasm | Substitution - coding silent |
c.297G>A; p.G99G; 2:37141645-37141645 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.275C>A; p.S92Y; 2:37141667-37141667 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.810A>G; p.I270M; 2:37126387-37126387 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.890G>A; p.R297H; 2:37126307-37126307 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1070C>T; p.S357L; 2:37120137-37120137 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.908A>T; p.E303V; 2:37126289-37126289 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1642C>T; p.R548*; 2:37107287-37107287 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1408G>T; p.D470Y; 2:37109265-37109265 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1649C>T; p.T550I; 2:37107280-37107280 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.101G>A; p.G34E; 2:37147706-37147706 |
skin | malignant_melanoma | Substitution - Missense |
c.681G>T; p.L227F; 2:37138276-37138276 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.542C>T; p.S181F; 2:37138560-37138560 |
skin | malignant_melanoma | Substitution - Missense |
c.1608G>C; p.L536F; 2:37107321-37107321 |
breast | carcinoma | Substitution - Missense |
c.1198A>C; p.K400Q; 2:37120009-37120009 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.1064C>G; p.S355*; 2:37122509-37122509 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1334G>A; p.R445Q; 2:37114774-37114774 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1150G>A; p.E384K; 2:37120057-37120057 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |