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

Basic Information

Gene ID

2139

Name

EYA2

Synonymous

EAB1;eyes absent homolog 2 (Drosophila);EYA2;eyes absent homolog 2 (Drosophila)

Definition

eyes absent homolog 2

Position

20q13.1

Gene Type

protein-coding

Gene Mutation:

PCGP germline mutation
PCGP somatic mutation
COSMIC somatic mutation

PCGP germline mutation   [Top]

There is no record for EYA2

PCGP somatic mutation   [Top]

Variant (Variant; Chr; Position)

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

Disease (CancerType; ValidationStatus; SequencingType)

EYA2_T199T; chr20; 45702910

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

COSMIC somatic mutation   [Top]

Mutation (CDS; AA; Chr)

Site

Histology

c.762G>A; p.K254K;

NSmalignant_melanoma

c.762G>A; p.K254K;

NSmalignant_melanoma

c.860C>T; p.T287M;

large_intestine; coloncarcinoma; adenocarcinoma

c.728G>T; p.R243L;

large_intestine; coloncarcinoma; adenocarcinoma

c.749G>A; p.R250Q;

large_intestine; coloncarcinoma; adenocarcinoma

c.502G>A; p.G168S;

large_intestine; coloncarcinoma; adenocarcinoma

c.719G>A; p.R240K;

oesophagus; lower_thirdcarcinoma; adenocarcinoma

c.1537C>T; p.H513Y;

oesophaguscarcinoma; adenocarcinoma

c.703G>C; p.E235Q;

oesophaguscarcinoma; adenocarcinoma

c.893C>T; p.T298I;

large_intestine; coloncarcinoma

c.1053C>T; p.S351S;

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinoma

c.584C>T; p.S195L;

skin; head_neckmalignant_melanoma; superficial_spreading

c.372C>A; p.S124R;

lungcarcinoma; adenocarcinoma

c.247C>T; p.P83S;

lungcarcinoma; adenocarcinoma

c.144G>T; p.Q48H;

lungcarcinoma; adenocarcinoma

c.290C>T; p.P97L;

lungcarcinoma; adenocarcinoma

c.563C>A; p.P188Q;

lungcarcinoma; adenocarcinoma

c.136G>T; p.V46L;

lungcarcinoma; adenocarcinoma

c.1114G>C; p.G372R;

lungcarcinoma; adenocarcinoma

c.215C>T; p.T72M;

lungcarcinoma; adenocarcinoma

c.826G>A; p.D276N;

lungcarcinoma; adenocarcinoma

c.878G>A; p.R293K;

skin; trunkmalignant_melanoma

c.52G>A; p.D18N;

skin; trunkmalignant_melanoma

c.1287G>A; p.L429L;

NSNS

c.1199G>A; p.G400E;

livercarcinoma

c.597G>A; p.T199T;

central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastoma

c.228G>A; p.A76A;

lungcarcinoma; squamous_cell_carcinoma

c.1128G>T; p.W376C;

lungcarcinoma; squamous_cell_carcinoma

c.810G>C; p.V270V; 20:45159136-45159136

 ovarycarcinoma; serous_carcinoma

c.509C>A; p.P170H;

lungcarcinoma; squamous_cell_carcinoma

c.1157G>T; p.R386L;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.215C>A; p.T72K;

lungcarcinoma; adenocarcinoma

c.731C>A; p.A244D;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.600C>A; p.S200S;

lungcarcinoma; adenocarcinoma

c.1175A>T; p.N392I;

lung; right_lower_lobecarcinoma; adenocarcinoma

c.339G>C; p.Q113H;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.981T>G; p.D327E;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.710A>T; p.D237V;

breastcarcinoma

c.860C>T; p.T287M;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.908G>A; p.R303H;

endometriumcarcinoma; endometrioid_carcinoma

c.1192G>A; p.V398I;

large_intestine; caecumcarcinoma; adenocarcinoma

c.1113C>T; p.H371H;

large_intestine; coloncarcinoma; adenocarcinoma

c.1108G>A; p.V370M;

large_intestine; coloncarcinoma; adenocarcinoma

c.897G>A; p.T299T;

large_intestine; coloncarcinoma; adenocarcinoma

c.844T>G; p.F282V;

large_intestine; caecumcarcinoma; adenocarcinoma

c.463G>A; p.G155S;

large_intestine; caecumcarcinoma; adenocarcinoma

c.1107C>T; p.G369G;

large_intestine; caecumcarcinoma; adenocarcinoma

c.907C>T; p.R303C;

large_intestine; rectumcarcinoma; adenocarcinoma

c.723G>A; p.P241P;

large_intestine; rectumcarcinoma; adenocarcinoma

c.156A>G; p.R52R;

large_intestine; rectumcarcinoma; adenocarcinoma

c.559G>A; p.V187I;

breastcarcinoma

c.959T>C; p.L320P;

endometriumcarcinoma; endometrioid_carcinoma

c.860C>T; p.T287M;

endometriumcarcinoma; endometrioid_carcinoma

c.1110G>A; p.V370V;

breastcarcinoma

c.809T>C; p.V270A;

large_intestine; coloncarcinoma; adenocarcinoma

c.580C>A; p.P194T;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.60G>C; p.L20L;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.1050C>A; p.F350L;

endometriumcarcinoma; endometrioid_carcinoma

c.883G>A; p.G295R;

endometriumcarcinoma; endometrioid_carcinoma

c.1034T>G; p.L345*;

endometriumcarcinoma; endometrioid_carcinoma

c.722C>T; p.P241L;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.529_530delTA; p.Y177fs*45;

endometriumcarcinoma; endometrioid_carcinoma

c.1116C>T; p.G372G;

large_intestine; coloncarcinoma; adenocarcinoma

c.1119C>A; p.G373G;

large_intestine; rectumcarcinoma; adenocarcinoma

c.1602G>C; p.E534D;

large_intestine; caecumcarcinoma; adenocarcinoma

c.1147C>T; p.R383C;

endometriumcarcinoma; endometrioid_carcinoma

c.196A>G; p.M66V;

endometriumcarcinoma; endometrioid_carcinoma

c.156-1G>C; p.?;

urinary_tract; bladdercarcinoma

c.358G>T; p.G120C;

large_intestine; caecumcarcinoma; adenocarcinoma

c.809T>C; p.V270A;

large_intestine; rectumcarcinoma; adenocarcinoma

c.645T>C; p.S215S;

breastcarcinoma

c.1022A>C; p.N341T;

prostatecarcinoma; adenocarcinoma

c.921G>A; p.M307I;

skinmalignant_melanoma

c.941A>G; p.N314S;

skinmalignant_melanoma

c.4G>A; p.V2I;

skinmalignant_melanoma

c.289C>T; p.P97S;

skinmalignant_melanoma

c.500C>T; p.P167L;

skinmalignant_melanoma

c.1153C>T; p.R385W;

skinmalignant_melanoma

c.761A>G; p.K254R;

skinmalignant_melanoma

c.715G>A; p.D239N;

skin; upper_legmalignant_melanoma

c.683G>A; p.G228E;

skinmalignant_melanoma

c.1003G>A; p.D335N;

skinmalignant_melanoma

c.921G>A; p.M307I;

skin; mucosalmalignant_melanoma

c.377C>T; p.S126L;

skin; scalpcarcinoma; squamous_cell_carcinoma

c.1436-6G>A; p.?;

stomachadenocarcinoma

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