| Gene ID | 22900 |
| Symbol | CARD8 |
| Synonymous | CARDINAL|DACAR|DAKAR|NDPP|NDPP1|TUCAN |
| Full name | caspase recruitment domain family, member 8 |
| Gene description | CARD inhibitor of NF-kappaB-activating ligands|apoptotic protein NDPP1|caspase recruitment domain-containing protein 8|tumor up-regulated CARD-containing antagonist of CASP9|tumor up-regulated CARD-containing antagonist of caspase nine |
| Cytoband | 19q13.33 |
| Gene type | protein-coding |
| Synonymous | MIM:609051; HGNC:HGNC:17057; Ensembl:ENSG00000105483; HPRD:16425 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.526G>T; p.A176S; 19:48230629-48230629 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1144C>T; p.L382L; 19:48211862-48211862 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.728A>G; p.D243G; 19:48221845-48221845 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.902C>T; p.A301V; 19:48218954-48218954 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.619A>G; p.I207V; 19:48230536-48230536 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.160C>T; p.R54C; 19:48231727-48231727 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.160C>T; p.R54C; 19:48231727-48231727 |
skin | malignant_melanoma | Substitution - Missense |
c.160C>T; p.R54C; 19:48231727-48231727 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.458-10C>G; p.?; 19:48230707-48230707 |
kidney | other; neoplasm | Unknown |
c.453C>G; p.L151L; 19:48230781-48230781 |
breast | carcinoma | Substitution - coding silent |
c.1178A>G; p.N393S; 19:48211828-48211828 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1221C>T; p.A407A; 19:48211785-48211785 |
skin | malignant_melanoma | Substitution - coding silent |
c.22C>T; p.H8Y; 19:48234457-48234457 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844G>T; p.E282*; 19:48219012-48219012 |
pancreas | carcinoma | Substitution - Nonsense |
c.96G>T; p.E32D; 19:48231791-48231791 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.526G>C; p.A176P; 19:48230629-48230629 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1287G>T; p.Q429H; 19:48211719-48211719 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.161G>A; p.R54H; 19:48231726-48231726 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.33C>T; p.S11S; 19:48234446-48234446 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.662C>A; p.P221H; 19:48230493-48230493 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.206A>G; p.D69G; 19:48231681-48231681 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.740G>A; p.R247H; 19:48221833-48221833 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1225G>A; p.D409N; 19:48211781-48211781 |
prostate | carcinoma | Substitution - Missense |
c.72_73CC>TT; p.P25S; 19:48234406-48234407 |
skin | malignant_melanoma | Substitution - Missense |
c.124A>G; p.K42E; 19:48231763-48231763 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2T>C; p.M1T; 19:48234477-48234477 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.920C>T; p.P307L; 19:48218936-48218936 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.127_128insAA; p.V43fs*26; 19:48231759-48231760 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.127_128insAA; p.V43fs*26; 19:48231759-48231760 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.127_128insAA; p.V43fs*26; 19:48231759-48231760 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.1150G>A; p.E384K; 19:48211856-48211856 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1228G>A; p.V410M; 19:48211778-48211778 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.658delC; p.H220fs*18; 19:48230497-48230497 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.141C>T; p.I47I; 19:48231746-48231746 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1283A>C; p.Q428P; 19:48211723-48211723 |
skin | malignant_melanoma | Substitution - Missense |
c.364C>T; p.Q122*; 19:48230870-48230870 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.598G>A; p.A200T; 19:48230557-48230557 |
liver | carcinoma | Substitution - Missense |
c.424G>A; p.E142K; 19:48230810-48230810 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.469G>A; p.V157I; 19:48230686-48230686 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.611G>A; p.R204H; 19:48230544-48230544 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.58C>A; p.L20M; 19:48234421-48234421 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.237C>T; p.F79F; 19:48230997-48230997 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.237C>T; p.F79F; 19:48230997-48230997 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.1217T>A; p.L406Q; 19:48211789-48211789 |
breast | carcinoma | Substitution - Missense |
c.205G>T; p.D69Y; 19:48231682-48231682 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.450C>T; p.S150S; 19:48230784-48230784 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.450C>T; p.S150S; 19:48230784-48230784 |
skin | malignant_melanoma | Substitution - coding silent |
c.700G>A; p.D234N; 19:48230455-48230455 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.182G>A; p.G61E; 19:48231705-48231705 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.528C>T; p.A176A; 19:48230627-48230627 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.528C>T; p.A176A; 19:48230627-48230627 |
skin | malignant_melanoma | Substitution - coding silent |
c.142G>A; p.E48K; 19:48231745-48231745 |
skin | malignant_melanoma | Substitution - Missense |
c.1149G>T; p.V383V; 19:48211857-48211857 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.596T>C; p.I199T; 19:48230559-48230559 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.30T>A; p.C10*; 19:48234449-48234449 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.30T>A; p.C10*; 19:48234449-48234449 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.30T>A; p.C10*; 19:48234449-48234449 |
thyroid | other; neoplasm | Substitution - Nonsense |
c.30T>A; p.C10*; 19:48234449-48234449 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.1031G>T; p.G344V; 19:48211975-48211975 |
liver | carcinoma | Substitution - Missense |
c.667G>T; p.D223Y; 19:48230488-48230488 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1031G>T; p.G344V; 19:48211975-48211975 |
liver | carcinoma | Substitution - Missense |
c.925C>G; p.Q309E; 19:48218931-48218931 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.925C>G; p.Q309E; 19:48218931-48218931 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.409G>C; p.E137Q; 19:48230825-48230825 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.597C>T; p.I199I; 19:48230558-48230558 |
skin | malignant_melanoma | Substitution - coding silent |
c.553C>T; p.L185L; 19:48230602-48230602 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1003G>A; p.A335T; 19:48215367-48215367 |
haematopoietic_and_lymphoid_tissue; abdomen | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.703G>A; p.A235T; 19:48230452-48230452 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.664G>A; p.E222K; 19:48230491-48230491 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.664G>A; p.E222K; 19:48230491-48230491 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.308C>T; p.T103M; 19:48230926-48230926 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.66_67insG; p.T23fs*20; 19:48234412-48234413 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.618C>T; p.S206S; 19:48230537-48230537 |
skin | malignant_melanoma | Substitution - coding silent |
c.113C>T; p.S38F; 19:48231774-48231774 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.860_870del11; p.Y287fs*21; 19:48218986-48218996 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.1209A>T; p.K403N; 19:48211797-48211797 |
breast | carcinoma | Substitution - Missense |