| Gene ID | 3706 |
| Symbol | ITPKA |
| Synonymous | IP3-3KA|IP3KA |
| Full name | inositol-trisphosphate 3-kinase A |
| Gene description | IP3 3-kinase A|IP3K A|inositol 1,4,5-trisphosphate 3-kinase A|insP 3-kinase A |
| Cytoband | 15q15.1 |
| Gene type | protein-coding |
| Synonymous | MIM:147521; HGNC:HGNC:6178; Ensembl:ENSG00000137825; HPRD:00941; Vega:OTTHUMG00000130343 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1110+8C>T; p.?; 15:41502511-41502511 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Unknown |
c.1386A>G; p.*462W; 15:41503166-41503166 |
large_intestine | carcinoma; adenocarcinoma | Nonstop extension |
c.665T>G; p.L222R; 15:41501713-41501713 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.706G>A; p.G236S; 15:41501754-41501754 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.341T>C; p.L114P; 15:41494268-41494268 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.646C>T; p.R216C; 15:41501694-41501694 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.709G>A; p.V237M; 15:41501757-41501757 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.785A>G; p.D262G; 15:41501833-41501833 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.678G>A; p.A226A; 15:41501726-41501726 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.557A>T; p.Y186F; 15:41501530-41501530 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.678G>A; p.A226A; 15:41501726-41501726 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.834C>A; p.A278A; 15:41502027-41502027 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.861_862insATGT; p.K290fs*10; 15:41502054-41502055 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.841C>T; p.R281W; 15:41502034-41502034 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1112G>C; p.R371T; 15:41502789-41502789 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.187G>A; p.G63R; 15:41494114-41494114 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.1321G>A; p.E441K; 15:41503101-41503101 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1069C>T; p.R357C; 15:41502462-41502462 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.858G>T; p.K286N; 15:41502051-41502051 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1048C>T; p.R350*; 15:41502441-41502441 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.643G>A; p.E215K; 15:41501691-41501691 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1023C>T; p.S341S; 15:41502416-41502416 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.566T>C; p.V189A; 15:41501539-41501539 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.566T>C; p.V189A; 15:41501539-41501539 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1362C>T; p.I454I; 15:41503142-41503142 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.635C>G; p.S212W; 15:41501683-41501683 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.493A>C; p.N165H; 15:41501466-41501466 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1319G>A; p.R440H; 15:41503099-41503099 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.682C>T; p.R228C; 15:41501730-41501730 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.682C>T; p.R228C; 15:41501730-41501730 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.928G>A; p.V310I; 15:41502121-41502121 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.259G>T; p.E87*; 15:41494186-41494186 |
pancreas | carcinoma | Substitution - Nonsense |
c.529C>T; p.P177S; 15:41501502-41501502 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.881C>T; p.A294V; 15:41502074-41502074 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.388delT; p.S130fs*13; 15:41494315-41494315 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1054C>T; p.R352*; 15:41502447-41502447 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1106T>C; p.V369A; 15:41502499-41502499 |
breast | carcinoma | Substitution - Missense |
c.903G>A; p.T301T; 15:41502096-41502096 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.903G>A; p.T301T; 15:41502096-41502096 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1046C>T; p.T349M; 15:41502439-41502439 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1046C>T; p.T349M; 15:41502439-41502439 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.739C>A; p.Q247K; 15:41501787-41501787 |
pancreas | carcinoma | Substitution - Missense |
c.769G>C; p.G257R; 15:41501817-41501817 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1259C>T; p.T420I; 15:41503039-41503039 |
skin | malignant_melanoma | Substitution - Missense |
c.1179C>T; p.H393H; 15:41502856-41502856 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.865T>C; p.Y289H; 15:41502058-41502058 |
stomach | adenocarcinoma | Substitution - Missense |
c.1318C>T; p.R440C; 15:41503098-41503098 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |