General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information |
|
---|---|
Gene ID | 4773 |
Name | NFATC2 |
Synonymous | nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2;NFATC2;nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 |
Definition | NF-ATc2|NFAT pre-existing subunit|NFAT transcription complex, preexisting component|T cell transcription factor NFAT1|T-cell transcription factor NFAT1|nuclear factor of activated T-cells, cytoplasmic 2|nuclear factor of activated T-cells, preexisting com |
Position | 20q13.2 |
Gene Type | protein-coding |
Mutation summary: | Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72 |
Mutation summary in protein domains | Top |
The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers | Top |
Loss of Function mutations compare to missense mutations | Top |
The ratio of the loss-of-function mutations over missense mutations is 0.06. |
The copy number variations for various cancers | Top |
The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) |
Site |
Histology |
Mutation Type |
---|---|---|---|
c.249_250insC; p.G84fs*8; 20:51523991-51523992 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1199C>T; p.P400L; 20:51516917-51516917 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1115C>T; p.P372L; 20:51523126-51523126 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1028G>A; p.R343H; 20:51523213-51523213 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1028G>A; p.R343H; 20:51523213-51523213 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1516A>C; p.K506Q; 20:51475477-51475477 |
prostate | carcinoma | Substitution - Missense |
c.1516A>C; p.K506Q; 20:51475477-51475477 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.887delC; p.P296fs*7; 20:51523354-51523354 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.1516A>C; p.K506Q; 20:51475477-51475477 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.1494C>T; p.V498V; 20:51475499-51475499 |
skin | malignant_melanoma | Substitution - coding silent |
c.2675T>G; p.V892G; 20:51432114-51432114 |
breast | carcinoma | Substitution - Missense |
c.1880C>T; p.T627M; 20:51435731-51435731 |
pancreas | carcinoma | Substitution - Missense |
c.1905C>T; p.P635P; 20:51435706-51435706 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1880C>T; p.T627M; 20:51435731-51435731 |
pancreas | carcinoma | Substitution - Missense |
c.1905C>T; p.P635P; 20:51435706-51435706 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1905C>T; p.P635P; 20:51435706-51435706 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2466C>T; p.C822C; 20:51432323-51432323 |
breast | carcinoma | Substitution - coding silent |
c.1000G>A; p.A334T; 20:51523241-51523241 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.346A>T; p.T116S; 20:51523895-51523895 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.1075G>A; p.E359K; 20:51523166-51523166 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1075G>A; p.E359K; 20:51523166-51523166 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1994G>A; p.R665K; 20:51435226-51435226 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.2348C>T; p.S783F; 20:51432441-51432441 |
pancreas | carcinoma | Substitution - Missense |
c.2304G>A; p.P768P; 20:51432485-51432485 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.154G>A; p.A52T; 20:51524087-51524087 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.154G>A; p.A52T; 20:51524087-51524087 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.154G>A; p.A52T; 20:51524087-51524087 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1337A>G; p.H446R; 20:51475656-51475656 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2623G>A; p.A875T; 20:51432166-51432166 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1672G>A; p.V558I; 20:51474016-51474016 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.977G>A; p.S326N; 20:51523264-51523264 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1944G>T; p.K648N; 20:51435276-51435276 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1288C>T; p.R430*; 20:51516828-51516828 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.2750C>T; p.S917L; 20:51391424-51391424 |
skin | malignant_melanoma | Substitution - Missense |
c.1288C>T; p.R430*; 20:51516828-51516828 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.950G>A; p.G317E; 20:51523291-51523291 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.175G>A; p.A59T; 20:51524066-51524066 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2772G>T; p.Q924H; 20:51391402-51391402 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.99C>A; p.L33L; 20:51542401-51542401 |
lung | carcinoma; small_cell_carcinoma | Substitution - coding silent |
c.175G>A; p.A59T; 20:51524066-51524066 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.950G>A; p.G317E; 20:51523291-51523291 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.366C>G; p.I122M; 20:51523875-51523875 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.711C>A; p.P237P; 20:51523530-51523530 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2391G>T; p.L797L; 20:51432398-51432398 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.182C>T; p.P61L; 20:51524059-51524059 |
skin | malignant_melanoma | Substitution - Missense |
c.1923G>A; p.E641E; 20:51435297-51435297 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - coding silent |
c.718C>G; p.R240G; 20:51523523-51523523 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.701_702insC; p.H235fs*94; 20:51523539-51523540 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Insertion - Frameshift |
c.1433G>A; p.R478Q; 20:51475560-51475560 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1433G>A; p.R478Q; 20:51475560-51475560 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.590G>A; p.G197E; 20:51523651-51523651 |
skin; scalp | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2199G>A; p.T733T; 20:51432590-51432590 |
skin | malignant_melanoma | Substitution - coding silent |
c.1535C>T; p.T512I; 20:51475458-51475458 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2660T>C; p.V887A; 20:51432129-51432129 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.2034C>T; p.V678V; 20:51432755-51432755 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1498G>A; p.E500K; 20:51475495-51475495 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.469G>A; p.G157S; 20:51523772-51523772 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.571G>A; p.V191I; 20:51523670-51523670 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.831G>T; p.P277P; 20:51523410-51523410 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.698G>A; p.G233D; 20:51523543-51523543 |
liver | carcinoma | Substitution - Missense |
c.963G>T; p.K321N; 20:51523278-51523278 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1505C>A; p.P502H; 20:51475488-51475488 |
breast | carcinoma | Substitution - Missense |
c.2674delG; p.V892fs*1; 20:51432115-51432115 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2070C>G; p.D690E; 20:51432719-51432719 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.21G>A; p.Q7Q; 20:51542479-51542479 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.842C>T; p.S281F; 20:51523399-51523399 |
skin | malignant_melanoma | Substitution - Missense |
c.960_961insC; p.K321fs*8; 20:51523280-51523281 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.366C>T; p.I122I; 20:51523875-51523875 |
skin | malignant_melanoma | Substitution - coding silent |
c.2082C>T; p.I694I; 20:51432707-51432707 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2571G>A; p.P857P; 20:51432218-51432218 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2776T>C; p.*926Q; 20:51391398-51391398 |
endometrium | carcinoma; endometrioid_carcinoma | Nonstop extension |
c.1065C>T; p.C355C; 20:51523176-51523176 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2450A>G; p.N817S; 20:51432339-51432339 |
skin | malignant_melanoma | Substitution - Missense |
c.2344C>T; p.R782C; 20:51432445-51432445 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1921G>A; p.E641K; 20:51435299-51435299 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.2511C>T; p.F837F; 20:51432278-51432278 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2511C>T; p.F837F; 20:51432278-51432278 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.989C>T; p.S330L; 20:51523252-51523252 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.491C>T; p.P164L; 20:51523750-51523750 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.534C>A; p.F178L; 20:51523707-51523707 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.712G>C; p.V238L; 20:51523529-51523529 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.462C>G; p.P154P; 20:51523779-51523779 |
skin | malignant_melanoma | Substitution - coding silent |
c.2672G>T; p.G891V; 20:51432117-51432117 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.941C>T; p.S314L; 20:51523300-51523300 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.2334G>A; p.A778A; 20:51432455-51432455 |
breast | carcinoma | Substitution - coding silent |
c.1782G>A; p.Q594Q; 20:51454615-51454615 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2099G>T; p.G700V; 20:51432690-51432690 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1460_1462delCCA; p.T487delT; 20:51475531-51475533 |
thyroid | carcinoma; anaplastic_carcinoma | Deletion - In frame |
c.668G>A; p.R223Q; 20:51523573-51523573 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1546G>T; p.A516S; 20:51474142-51474142 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1044C>T; p.A348A; 20:51523197-51523197 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1382G>A; p.G461E; 20:51475611-51475611 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.280C>T; p.P94S; 20:51523961-51523961 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2048C>T; p.T683M; 20:51432741-51432741 |
pancreas | carcinoma | Substitution - Missense |
c.2248G>A; p.V750I; 20:51432541-51432541 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1261C>T; p.R421W; 20:51516855-51516855 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1377C>T; p.F459F; 20:51475616-51475616 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.648C>T; p.T216T; 20:51523593-51523593 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1233G>A; p.R411R; 20:51516883-51516883 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.223C>T; p.L75F; 20:51524018-51524018 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1869G>A; p.E623E; 20:51435742-51435742 |
liver | carcinoma | Substitution - coding silent |
c.1869G>A; p.E623E; 20:51435742-51435742 |
liver | carcinoma | Substitution - coding silent |
c.836C>A; p.P279H; 20:51523405-51523405 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.667C>T; p.R223*; 20:51523574-51523574 |
skin | malignant_melanoma | Substitution - Nonsense |
c.878G>C; p.G293A; 20:51523363-51523363 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.1887T>C; p.D629D; 20:51435724-51435724 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1887T>C; p.D629D; 20:51435724-51435724 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1887T>C; p.D629D; 20:51435724-51435724 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2715G>A; p.L905L; 20:51432074-51432074 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.754C>T; p.R252W; 20:51523487-51523487 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.986C>T; p.P329L; 20:51523255-51523255 |
skin | malignant_melanoma | Substitution - Missense |
c.430G>A; p.G144R; 20:51523811-51523811 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2146G>A; p.E716K; 20:51432643-51432643 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2146G>A; p.E716K; 20:51432643-51432643 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1626G>C; p.V542V; 20:51474062-51474062 |
breast | carcinoma | Substitution - coding silent |
c.1287C>T; p.S429S; 20:51516829-51516829 |
skin | malignant_melanoma | Substitution - coding silent |
c.105C>T; p.D35D; 20:51542395-51542395 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2209T>C; p.S737P; 20:51432580-51432580 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1079G>T; p.R360M; 20:51523162-51523162 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1115C>A; p.P372Q; 20:51523126-51523126 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.978C>T; p.S326S; 20:51523263-51523263 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2221C>T; p.R741C; 20:51432568-51432568 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2758C>T; p.P920S; 20:51391416-51391416 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2536_2537CC>TT; p.P846L; 20:51432252-51432253 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.736T>G; p.S246A; 20:51523505-51523505 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.592_594delCCC; p.P198delP; 20:51523647-51523649 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Deletion - In frame |
c.299C>T; p.A100V; 20:51523942-51523942 |
ovary | other; neoplasm | Substitution - Missense |
c.299C>T; p.A100V; 20:51523942-51523942 |
pancreas | carcinoma | Substitution - Missense |
c.299C>T; p.A100V; 20:51523942-51523942 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1117C>A; p.P373T; 20:51523124-51523124 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1547C>T; p.A516V; 20:51474141-51474141 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.792G>A; p.P264P; 20:51523449-51523449 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.394G>A; p.D132N; 20:51523847-51523847 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2194C>T; p.R732C; 20:51432595-51432595 |
skin | malignant_melanoma | Substitution - Missense |
c.111G>C; p.E37D; 20:51542389-51542389 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1777G>A; p.G593S; 20:51454620-51454620 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.1685C>A; p.T562N; 20:51474003-51474003 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.810G>T; p.Q270H; 20:51523431-51523431 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.131-1G>A; p.?; 20:51524111-51524111 |
urinary_tract; bladder | carcinoma | Unknown |
c.2260C>T; p.R754W; 20:51432529-51432529 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.1987G>T; p.G663W; 20:51435233-51435233 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2260C>T; p.R754W; 20:51432529-51432529 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.2260C>T; p.R754W; 20:51432529-51432529 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.893C>G; p.A298G; 20:51523348-51523348 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1992G>C; p.K664N; 20:51435228-51435228 |
breast | carcinoma | Substitution - Missense |
c.2613C>T; p.S871S; 20:51432176-51432176 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.2630A>G; p.N877S; 20:51432159-51432159 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.266C>T; p.P89L; 20:51523975-51523975 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.266C>T; p.P89L; 20:51523975-51523975 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.321G>A; p.S107S; 20:51523920-51523920 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.2596C>T; p.Q866*; 20:51432193-51432193 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.429C>T; p.A143A; 20:51523812-51523812 |
breast | carcinoma | Substitution - coding silent |
c.1621C>A; p.R541R; 20:51474067-51474067 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1489A>G; p.K497E; 20:51475504-51475504 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.320C>T; p.S107L; 20:51523921-51523921 |
ovary | other; neoplasm | Substitution - Missense |
c.1011C>T; p.S337S; 20:51523230-51523230 |
skin | malignant_melanoma | Substitution - coding silent |
c.2261G>A; p.R754Q; 20:51432528-51432528 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.884C>T; p.P295L; 20:51523357-51523357 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.2723-4G>T; p.?; 20:51391455-51391455 |
liver | carcinoma; hepatocellular_carcinoma | Unknown |
c.222C>T; p.P74P; 20:51524019-51524019 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.865G>A; p.G289S; 20:51523376-51523376 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1509G>T; p.L503F; 20:51475484-51475484 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.865G>A; p.G289S; 20:51523376-51523376 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.731G>A; p.R244H; 20:51523510-51523510 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1598C>T; p.T533M; 20:51474090-51474090 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1937G>C; p.R646P; 20:51435283-51435283 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.796G>A; p.G266R; 20:51523445-51523445 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1396C>T; p.R466W; 20:51475597-51475597 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.741G>A; p.S247S; 20:51523500-51523500 |
thyroid | other; neoplasm | Substitution - coding silent |
c.741G>A; p.S247S; 20:51523500-51523500 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.893C>T; p.A298V; 20:51523348-51523348 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1715G>A; p.R572Q; 20:51454682-51454682 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.777C>T; p.A259A; 20:51523464-51523464 |
skin | malignant_melanoma | Substitution - coding silent |
c.1503A>C; p.I501I; 20:51475490-51475490 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.2046G>A; p.K682K; 20:51432743-51432743 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1118C>A; p.P373H; 20:51523123-51523123 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.349C>G; p.P117A; 20:51523892-51523892 |
breast | carcinoma | Substitution - Missense |
c.1776C>T; p.G592G; 20:51454621-51454621 |
thyroid | carcinoma | Substitution - coding silent |
c.1776C>T; p.G592G; 20:51454621-51454621 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.224T>C; p.L75P; 20:51524017-51524017 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>T; p.R273L; 20:51523423-51523423 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.854C>A; p.P285H; 20:51523387-51523387 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.2528G>A; p.R843K; 20:51432261-51432261 |
liver | carcinoma | Substitution - Missense |
c.221C>T; p.P74L; 20:51524020-51524020 |
skin; trunk | malignant_melanoma; nodular | Substitution - Missense |
c.666T>C; p.P222P; 20:51523575-51523575 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.666T>C; p.P222P; 20:51523575-51523575 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1321C>T; p.P441S; 20:51516795-51516795 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1553T>C; p.I518T; 20:51474135-51474135 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.269A>G; p.D90G; 20:51523972-51523972 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1553T>C; p.I518T; 20:51474135-51474135 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.801C>T; p.A267A; 20:51523440-51523440 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1734C>T; p.P578P; 20:51454663-51454663 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.438C>T; p.A146A; 20:51523803-51523803 |
pancreas | carcinoma | Substitution - coding silent |
c.1909A>G; p.M637V; 20:51435311-51435311 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.701G>A; p.R234H; 20:51523540-51523540 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.268G>A; p.D90N; 20:51523973-51523973 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.268G>T; p.D90Y; 20:51523973-51523973 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.977G>T; p.S326I; 20:51523264-51523264 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1175C>T; p.A392V; 20:51516941-51516941 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1602C>T; p.D534D; 20:51474086-51474086 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2000G>A; p.R667Q; 20:51435220-51435220 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.811C>A; p.R271S; 20:51523430-51523430 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1573G>A; p.D525N; 20:51474115-51474115 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2079G>T; p.L693L; 20:51432710-51432710 |
breast | carcinoma | Substitution - coding silent |
c.2011C>T; p.Q671*; 20:51435209-51435209 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.421C>T; p.P141S; 20:51523820-51523820 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.282G>A; p.P94P; 20:51523959-51523959 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.791C>T; p.P264L; 20:51523450-51523450 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.791C>T; p.P264L; 20:51523450-51523450 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.647C>G; p.T216S; 20:51523594-51523594 |
skin; leg | malignant_melanoma | Substitution - Missense |
c.1936C>T; p.R646W; 20:51435284-51435284 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.474C>T; p.F158F; 20:51523767-51523767 |
skin | malignant_melanoma | Substitution - coding silent |
c.474C>T; p.F158F; 20:51523767-51523767 |
pancreas | carcinoma | Substitution - coding silent |
c.1977C>T; p.Y659Y; 20:51435243-51435243 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1977C>T; p.Y659Y; 20:51435243-51435243 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.610C>T; p.Q204*; 20:51523631-51523631 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1725C>A; p.H575Q; 20:51454672-51454672 |
soft_tissue; striated_muscle | rhabdomyosarcoma; embryonal | Substitution - Missense |
c.12C>T; p.P4P; 20:51542488-51542488 |
skin | malignant_melanoma | Substitution - coding silent |
c.877G>T; p.G293W; 20:51523364-51523364 |
liver | carcinoma | Substitution - Missense |
c.1413C>T; p.H471H; 20:51475580-51475580 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1460C>G; p.T487S; 20:51475533-51475533 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2423C>T; p.S808L; 20:51432366-51432366 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1441G>A; p.G481R; 20:51475552-51475552 |
skin | malignant_melanoma | Substitution - Missense |
c.2775G>A; p.T925T; 20:51391399-51391399 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.952A>T; p.I318F; 20:51523289-51523289 |
liver | carcinoma | Substitution - Missense |
c.1441G>A; p.G481R; 20:51475552-51475552 |
skin | malignant_melanoma | Substitution - Missense |
c.2423C>T; p.S808L; 20:51432366-51432366 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2775G>A; p.T925T; 20:51391399-51391399 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.952A>T; p.I318F; 20:51523289-51523289 |
liver | carcinoma | Substitution - Missense |
c.340G>T; p.E114*; 20:51523901-51523901 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.935C>T; p.T312M; 20:51523306-51523306 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.935C>T; p.T312M; 20:51523306-51523306 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.904G>T; p.V302L; 20:51523337-51523337 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1535+1G>A; p.?; 20:51475457-51475457 |
central_nervous_system; brain | glioma | Unknown |
c.1527G>T; p.M509I; 20:51475466-51475466 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1134G>A; p.P378P; 20:51523107-51523107 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1677T>C; p.S559S; 20:51474011-51474011 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.955C>T; p.P319S; 20:51523286-51523286 |
skin | malignant_melanoma | Substitution - Missense |
c.2525C>T; p.T842I; 20:51432264-51432264 |
skin | malignant_melanoma | Substitution - Missense |
c.2696A>G; p.N899S; 20:51432093-51432093 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1585C>T; p.R529W; 20:51474103-51474103 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.729C>T; p.S243S; 20:51523512-51523512 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1232G>A; p.R411Q; 20:51516884-51516884 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1014G>A; p.K338K; 20:51523227-51523227 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.420G>A; p.P140P; 20:51523821-51523821 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.2563C>T; p.L855L; 20:51432226-51432226 |
skin | malignant_melanoma | Substitution - coding silent |
c.2328_2329CC>TT; p.L777F; 20:51432460-51432461 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2719G>T; p.D907Y; 20:51432070-51432070 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.811C>T; p.R271C; 20:51523430-51523430 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.811C>T; p.R271C; 20:51523430-51523430 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2719G>T; p.D907Y; 20:51432070-51432070 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1073G>A; p.G358D; 20:51523168-51523168 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1053C>T; p.F351F; 20:51523188-51523188 |
skin | malignant_melanoma | Substitution - coding silent |
c.2638C>T; p.P880S; 20:51432151-51432151 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.2293T>C; p.Y765H; 20:51432496-51432496 |
skin | malignant_melanoma | Substitution - Missense |