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Pediatric cancer database
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

5080

Name

PAX6

Synonymous

AN|AN2|D11S812E|MGDA|WAGR;paired box 6;PAX6;paired box 6

Definition

aniridia type II protein|oculorhombin|paired box homeotic gene-6|paired box protein Pax-6

Position

11p13

Gene Type

protein-coding

Gene Mutation:

PCGP germline mutation
PCGP somatic mutation
COSMIC somatic mutation

PCGP germline mutation   [Top]

There is no record for PAX6

PCGP somatic mutation   [Top]

Variant (Variant; Chr; Position)

Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin)

Disease (CancerType; ValidationStatus; SequencingType)

PAX6_E13_UTR_3; chr11; 31810399

 SUB; UTR_3; G; G/A; SOMATICMB; VALID; WGS

PAX6_intron; chr11; 31832883

 SUB; INTRON; C; C/G; SOMATICRHB; VALID; WGS

COSMIC somatic mutation   [Top]

Mutation (CDS; AA; Chr)

Site

Histology

c.400-2A>T; p.?;

lungcarcinoma; squamous_cell_carcinoma

c.583G>A; p.E195K;

skin; neckmalignant_melanoma

c.1166delC; p.P389fs*7;

large_intestine; coloncarcinoma; adenocarcinoma

c.399+1G>A; p.?;

large_intestine; coloncarcinoma; adenocarcinoma

c.457G>A; p.A153T;

large_intestine; coloncarcinoma; adenocarcinoma

c.565+1G>T; p.?;

lungcarcinoma; adenocarcinoma

c.492C>A; p.N164K;

lungcarcinoma; adenocarcinoma

c.372G>T; p.G124G;

lungcarcinoma; undifferentiated_carcinoma

c.1266C>T; p.P422P;

oesophagus; lower_thirdcarcinoma; adenocarcinoma

c.1159_1160insCC; p.M391fs*6;

large_intestine; coloncarcinoma

c.1166delC; p.P389fs*7;

lungcarcinoma; adenocarcinoma

c.270G>T; p.P90P;

lungcarcinoma; adenocarcinoma

c.242G>T; p.R81I;

lungcarcinoma; adenocarcinoma

c.520C>T; p.P174S;

lungcarcinoma; adenocarcinoma

c.655C>T; p.Q219*;

lungcarcinoma; adenocarcinoma

c.415A>G; p.R139G;

central_nervous_system; medullaprimitive_neuroectodermal_tumour-medulloblastoma

c.223_224insGAGACT; p.Y74_Y75ins*;

central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastoma

c.242G>A; p.R81K;

skin; trunkmalignant_melanoma

c.635A>T; p.D212V;

ovarycarcinoma

c.1033C>T; p.P345S;

prostatecarcinoma

c.831C>T; p.A277A;

pancreasNS

c.123C>A; p.D41E;

livercarcinoma

c.421C>A; p.L141I;

autonomic_ganglianeuroblastoma

c.1272T>C; p.S424S;

lungcarcinoma; adenocarcinoma

c.959-2A>T; p.?;

lungcarcinoma; adenocarcinoma

c.569G>T; p.G190V; 11:31772909-31772909

 ovarycarcinoma; serous_carcinoma

c.445C>G; p.Q149E; 11:31778935-31778935

 ovarycarcinoma; serous_carcinoma

c.738C>A; p.T246T;

lungcarcinoma; squamous_cell_carcinoma

c.1230C>A; p.L410L;

lungcarcinoma; adenocarcinoma

c.1212C>A; p.G404G;

lungcarcinoma; squamous_cell_carcinoma

c.801A>G; p.R267R;

ovarycarcinoma; serous_carcinoma

c.560C>T; p.T187M;

lungcarcinoma; squamous_cell_carcinoma

c.950C>T; p.T317I;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.53G>T; p.G18V;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.1050C>T; p.T350T;

lungcarcinoma; adenocarcinoma

c.1111A>T; p.M371L;

lung; right_lower_lobecarcinoma; adenocarcinoma

c.356G>T; p.R119I;

lung; middle_lobecarcinoma; adenocarcinoma

c.286G>A; p.E96K;

large_intestine; caecumcarcinoma; adenocarcinoma

c.1166delC; p.P389fs*7;

large_intestine; coloncarcinoma; adenocarcinoma

c.621C>T; p.N207N;

breastcarcinoma

c.717G>A; p.L239L;

large_intestine; coloncarcinoma; adenocarcinoma

c.1031C>T; p.P344L;

large_intestine; coloncarcinoma; adenocarcinoma

c.1022G>A; p.S341N;

large_intestine; coloncarcinoma; adenocarcinoma

c.256G>A; p.G86S;

large_intestine; coloncarcinoma; adenocarcinoma

c.1202G>A; p.G401D;

large_intestine; caecumcarcinoma; adenocarcinoma

c.1131G>A; p.S377S;

large_intestine; coloncarcinoma; adenocarcinoma

c.866G>T; p.R289I;

large_intestine; rectumcarcinoma; adenocarcinoma

c.628G>T; p.D210Y;

large_intestine; rectumcarcinoma; adenocarcinoma

c.399C>T; p.S133S;

large_intestine; rectumcarcinoma; adenocarcinoma

c.1131G>A; p.S377S;

endometriumcarcinoma; endometrioid_carcinoma

c.1075-1G>T; p.?;

endometriumcarcinoma; endometrioid_carcinoma

c.323G>A; p.C108Y;

endometriumcarcinoma; endometrioid_carcinoma

c.439G>A; p.E147K;

endometriumcarcinoma; endometrioid_carcinoma

c.236C>A; p.S79Y;

endometriumcarcinoma; endometrioid_carcinoma

c.463G>A; p.G155S;

endometriumcarcinoma; endometrioid_carcinoma

c.1057A>G; p.N353D;

large_intestine; caecumcarcinoma; adenocarcinoma

c.474T>C; p.D158D;

large_intestine; caecumcarcinoma; adenocarcinoma

c.701A>G; p.E234G;

endometriumcarcinoma; endometrioid_carcinoma

c.433G>A; p.A145T;

endometriumcarcinoma; endometrioid_carcinoma

c.480A>G; p.L160L;

endometriumcarcinoma; endometrioid_carcinoma

c.959-2A>G; p.?;

endometriumcarcinoma; endometrioid_carcinoma

c.725-1G>T; p.?;

endometriumcarcinoma; endometrioid_carcinoma

c.625G>A; p.E209K;

endometriumcarcinoma; endometrioid_carcinoma

c.416G>T; p.R139I;

large_intestine; coloncarcinoma; adenocarcinoma

c.622G>T; p.G208*;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.597G>A; p.E199E;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.1166_1167insC; p.H390fs*36;

large_intestine; caecumcarcinoma; adenocarcinoma

c.1166delC; p.P389fs*7;

large_intestine; coloncarcinoma; adenocarcinoma

c.1166delC; p.P389fs*7;

large_intestine; coloncarcinoma; adenocarcinoma

c.1166delC; p.P389fs*7;

large_intestine; coloncarcinoma; adenocarcinoma

c.258T>C; p.G86G;

endometriumcarcinoma; endometrioid_carcinoma

c.446A>G; p.Q149R;

large_intestine; coloncarcinoma; adenocarcinoma

c.1089C>G; p.S363R;

large_intestine; coloncarcinoma; adenocarcinoma

c.130C>T; p.R44*;

large_intestine; coloncarcinoma; adenocarcinoma

c.1166_1167insC; p.H390fs*36;

large_intestine; caecumcarcinoma; adenocarcinoma

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