| Gene ID | 5530 |
| Symbol | PPP3CA |
| Synonymous | CALN|CALNA|CALNA1|CCN1|CNA1|PPP2B |
| Full name | protein phosphatase 3, catalytic subunit, alpha isozyme |
| Gene description | CAM-PRP catalytic subunit|calcineurin A alpha|calmodulin-dependent calcineurin A subunit alpha isoform|protein phosphatase 2B, catalytic subunit, alpha isoform|protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform|serine/threonine-protein |
| Cytoband | 4q24 |
| Gene type | protein-coding |
| Synonymous | MIM:114105; HGNC:HGNC:9314; Ensembl:ENSG00000138814; HPRD:00234; Vega:OTTHUMG00000133839 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.531C>A; p.A177A; 4:101098478-101098478 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.531C>A; p.A177A; 4:101098478-101098478 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.64C>A; p.P22T; 4:101196111-101196111 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1451C>T; p.P484L; 4:101025980-101025980 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1451C>T; p.P484L; 4:101025980-101025980 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.300G>A; p.K100K; 4:101109038-101109038 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1451C>T; p.P484L; 4:101025980-101025980 |
stomach | adenocarcinoma | Substitution - Missense |
c.734A>G; p.Q245R; 4:101093824-101093824 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1018C>T; p.P340S; 4:101063295-101063295 |
skin | malignant_melanoma | Substitution - Missense |
c.985A>G; p.M329V; 4:101063328-101063328 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.451C>A; p.H151N; 4:101099656-101099656 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.848C>G; p.A283G; 4:101083198-101083198 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.668C>A; p.A223E; 4:101093890-101093890 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1349A>G; p.E450G; 4:101029186-101029186 |
breast | carcinoma | Substitution - Missense |
c.1006T>C; p.C336R; 4:101063307-101063307 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1190G>A; p.R397K; 4:101040533-101040533 |
skin | malignant_melanoma | Substitution - Missense |
c.1432C>T; p.R478*; 4:101025999-101025999 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1432C>T; p.R478*; 4:101025999-101025999 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.70C>T; p.P24S; 4:101196105-101196105 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1371T>A; p.A457A; 4:101026060-101026060 |
skin | malignant_melanoma | Substitution - coding silent |
c.1195A>C; p.K399Q; 4:101040528-101040528 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.841C>T; p.H281Y; 4:101083205-101083205 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1410C>T; p.F470F; 4:101026021-101026021 |
breast | carcinoma | Substitution - coding silent |
c.884A>G; p.Q295R; 4:101080603-101080603 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1459A>G; p.R487G; 4:101025972-101025972 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1042G>T; p.D348Y; 4:101063271-101063271 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.925C>T; p.P309S; 4:101080562-101080562 |
skin | malignant_melanoma | Substitution - Missense |
c.1482C>A; p.A494A; 4:101025949-101025949 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1025G>T; p.W342L; 4:101063288-101063288 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.789G>A; p.P263P; 4:101083257-101083257 |
pancreas | carcinoma | Substitution - coding silent |
c.789G>A; p.P263P; 4:101083257-101083257 |
pancreas | carcinoma | Substitution - coding silent |
c.789G>A; p.P263P; 4:101083257-101083257 |
pancreas | carcinoma | Substitution - coding silent |
c.7G>A; p.E3K; 4:101346790-101346790 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1358A>G; p.E453G; 4:101029177-101029177 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1565G>A; p.*522*; 4:101025866-101025866 |
skin | malignant_melanoma | Substitution - coding silent |
c.502A>C; p.I168L; 4:101098507-101098507 |
pancreas | carcinoma | Substitution - Missense |
c.230delA; p.N77fs*22; 4:101195945-101195945 |
stomach | adenocarcinoma | Deletion - Frameshift |
c.1523A>G; p.N508S; 4:101025908-101025908 |
liver | carcinoma | Substitution - Missense |
c.126T>C; p.R42R; 4:101196049-101196049 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.520G>T; p.V174L; 4:101098489-101098489 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.893G>A; p.G298D; 4:101080594-101080594 |
skin | malignant_melanoma | Substitution - Missense |
c.1480G>A; p.A494T; 4:101025951-101025951 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.73C>T; p.P25S; 4:101196102-101196102 |
skin | malignant_melanoma | Substitution - Missense |
c.1087G>C; p.E363Q; 4:101061156-101061156 |
breast | carcinoma | Substitution - Missense |
c.451C>T; p.H151Y; 4:101099656-101099656 |
skin | malignant_melanoma | Substitution - Missense |
c.451C>T; p.H151Y; 4:101099656-101099656 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.1456C>T; p.R486C; 4:101025975-101025975 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1456C>T; p.R486C; 4:101025975-101025975 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1396A>G; p.K466E; 4:101026035-101026035 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.172G>T; p.E58*; 4:101196003-101196003 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1240A>T; p.R414*; 4:101040483-101040483 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1418C>A; p.A473D; 4:101026013-101026013 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1242-1G>T; p.?; 4:101032365-101032365 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.312C>T; p.V104V; 4:101109026-101109026 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.335G>A; p.R112H; 4:101109003-101109003 |
haematopoietic_and_lymphoid_tissue; central_nervous_system | lymphoid_neoplasm; primary_central_nervous_system_lymphoma | Substitution - Missense |
c.1444A>T; p.R482W; 4:101025987-101025987 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.592G>T; p.V198L; 4:101098417-101098417 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.840C>G; p.A280A; 4:101083206-101083206 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1013_1015delCTC; p.P338delP; 4:101063298-101063300 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - In frame |
c.75A>T; p.P25P; 4:101196100-101196100 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.853G>A; p.D285N; 4:101083193-101083193 |
skin | malignant_melanoma | Substitution - Missense |
c.555T>G; p.L185L; 4:101098454-101098454 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.956-3delT; p.?; 4:101063360-101063360 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.349G>T; p.G117W; 4:101108989-101108989 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.674G>C; p.G225A; 4:101093884-101093884 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1360G>A; p.A454T; 4:101029175-101029175 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.144G>A; p.A48A; 4:101196031-101196031 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.846A>C; p.E282D; 4:101083200-101083200 |
breast | carcinoma | Substitution - Missense |
c.588G>C; p.L196L; 4:101098421-101098421 |
breast | carcinoma | Substitution - coding silent |
c.1439A>T; p.N480I; 4:101025992-101025992 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1293G>T; p.M431I; 4:101032313-101032313 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.395A>T; p.Y132F; 4:101099712-101099712 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.101T>C; p.V34A; 4:101196074-101196074 |
breast | carcinoma | Substitution - Missense |
c.1304G>T; p.G435V; 4:101032302-101032302 |
soft_tissue; blood_vessel | angiosarcoma | Substitution - Missense |
c.408G>A; p.L136L; 4:101099699-101099699 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.408G>A; p.L136L; 4:101099699-101099699 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.541G>A; p.A181T; 4:101098468-101098468 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.209C>G; p.S70*; 4:101195966-101195966 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.874A>G; p.R292G; 4:101080613-101080613 |
liver | carcinoma | Substitution - Missense |
c.1395_1396insA; p.I467fs*3; 4:101026035-101026036 |
soft_tissue; blood_vessel | angiosarcoma | Insertion - Frameshift |
c.1429G>C; p.D477H; 4:101026002-101026002 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.97G>T; p.E33*; 4:101196078-101196078 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1254G>C; p.E418D; 4:101032352-101032352 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1265C>T; p.T422M; 4:101032341-101032341 |
breast | carcinoma | Substitution - Missense |
c.218G>A; p.R73Q; 4:101195957-101195957 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.570G>A; p.L190L; 4:101098439-101098439 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1348G>C; p.E450Q; 4:101029187-101029187 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.913A>T; p.I305F; 4:101080574-101080574 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.955+9T>A; p.?; 4:101080523-101080523 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.836G>A; p.R279Q; 4:101083210-101083210 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.658G>T; p.E220*; 4:101093900-101093900 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.650G>T; p.R217L; 4:101093908-101093908 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.248C>T; p.A83V; 4:101195927-101195927 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1296_1297CC>TT; p.P433S; 4:101032309-101032310 |
skin | malignant_melanoma | Substitution - Missense |
c.1296_1297CC>TT; p.P433S; 4:101032309-101032310 |
skin | malignant_melanoma | Substitution - Missense |
c.1172C>T; p.A391V; 4:101040551-101040551 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1417G>T; p.A473S; 4:101026014-101026014 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.493G>A; p.E165K; 4:101099614-101099614 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |