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

Basic Information

Gene ID

9401

Name

RECQL4

Synonymous

RECQ4;RecQ protein-like 4;RECQL4;RecQ protein-like 4

Definition

ATP-dependent DNA helicase Q4|DNA helicase, RecQ-like type 4|DNA helicase, RecQ-like, type 4

Position

8q24.3

Gene Type

protein-coding

Gene Mutation:

PCGP germline mutation
PCGP somatic mutation
COSMIC somatic mutation

PCGP germline mutation   [Top]

There is no record for RECQL4

PCGP somatic mutation   [Top]

Variant (Variant; Chr; Position)

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

Disease (CancerType; ValidationStatus; SequencingType)

RECQL4_G120R; chr8; 145742145

 SUB; MISSENSE; C; C/T; SOMATICRHB; PUTATIVE-HQ; WGS

RECQL4_G120R; chr8; 145742145

 SUB; MISSENSE; C; C/T; SOMATICRHB; VALID; WGS

RECQL4_G120R; chr8; 145742145

 SUB; MISSENSE; C; C/T; SOMATICRHB; PUTATIVE-HQ; EXOME

RECQL4_G120R; chr8; 145742145

 SUB; MISSENSE; C; C/T; SOMATICRHB; PUTATIVE-HQ; WGS

COSMIC somatic mutation   [Top]

Mutation (CDS; AA; Chr)

Site

Histology

c.2837G>A; p.R946H;

large_intestinecarcinoma; adenocarcinoma

c.3187G>A; p.E1063K;

breastcarcinoma; ER-PR-positive_carcinoma

c.3325G>C; p.E1109Q;

breastcarcinoma; basal_(triple-negative)_carcinoma

c.395G>A; p.R132K;

lungcarcinoma; squamous_cell_carcinoma

c.2068A>G; p.T690A;

large_intestine; coloncarcinoma; adenocarcinoma

c.3119C>T; p.P1040L;

large_intestine; coloncarcinoma; adenocarcinoma

c.2272C>T; p.R758*;

large_intestine; coloncarcinoma; adenocarcinoma

c.3506G>T; p.S1169I;

large_intestine; coloncarcinoma; adenocarcinoma

c.508G>T; p.G170C;

large_intestine; coloncarcinoma; adenocarcinoma

c.2464-1G>T; p.?;

pancreascarcinoma; acinar_carcinoma

c.365C>T; p.A122V;

oesophaguscarcinoma; adenocarcinoma

c.961G>A; p.G321R;

oesophaguscarcinoma; adenocarcinoma

c.1176T>G; p.G392G;

oesophaguscarcinoma; adenocarcinoma

c.2782G>C; p.E928Q;

oesophagus; lower_thirdcarcinoma; adenocarcinoma

c.1123C>T; p.R375C;

oesophaguscarcinoma; adenocarcinoma

c.3419G>A; p.R1140H;

oesophaguscarcinoma; adenocarcinoma

c.2579C>T; p.P860L;

livercarcinoma; hepatocellular_carcinoma

c.213+5C>T; p.?;

livercarcinoma

c.367C>G; p.L123V;

upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinoma

c.889G>C; p.D297H;

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinoma

c.2855G>C; p.G952A;

livercarcinoma

c.3588G>A; p.V1196V;

lungcarcinoma; adenocarcinoma

c.2924C>T; p.P975L;

lungcarcinoma; adenocarcinoma

c.2868C>A; p.L956L;

lungcarcinoma; adenocarcinoma

c.504G>A; p.R168R;

central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastoma

c.1647G>A; p.K549K; 8:145710691-145710691

 skinmalignant_melanoma

c.910C>T; p.Q304*;

prostatecarcinoma

c.1684C>T; p.R562W;

prostatecarcinoma

c.777C>T; p.G259G;

prostatecarcinoma

c.1364C>T; p.S455F;

endometriumcarcinoma; serous_carcinoma

c.1395G>A; p.T465T;

central_nervous_system; brainglioma; astrocytoma_Grade_IV

c.2941G>C; p.G981R;

lungcarcinoma; adenocarcinoma

c.1395G>C; p.T465T;

central_nervous_system; brainglioma; astrocytoma_Grade_IV

c.3342G>A; p.Q1114Q;

lungcarcinoma; squamous_cell_carcinoma

c.1712C>T; p.A571V;

lungcarcinoma; squamous_cell_carcinoma

c.2856C>G; p.G952G;

ovarycarcinoma; serous_carcinoma

c.467G>A; p.S156N;

lungcarcinoma; adenocarcinoma

c.355-2A>C; p.?;

lungcarcinoma; adenocarcinoma

c.3570G>C; p.L1190L;

lungcarcinoma; squamous_cell_carcinoma

c.165C>T; p.A55A;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.280C>T; p.P94S;

lungcarcinoma; squamous_cell_carcinoma

c.566G>T; p.G189V;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.187G>C; p.E63Q;

lung; right_lower_lobecarcinoma; adenocarcinoma

c.3259C>T; p.P1087S;

endometriumcarcinoma; endometrioid_carcinoma

c.1124G>A; p.R375H;

large_intestine; coloncarcinoma; adenocarcinoma

c.2636_2637insC; p.Q880fs*4;

large_intestine; caecumcarcinoma; adenocarcinoma

c.2087G>A; p.R696H;

large_intestine; caecumcarcinoma; adenocarcinoma

c.996G>T; p.K332N;

large_intestine; caecumcarcinoma; adenocarcinoma

c.2161C>T; p.R721*;

large_intestine; caecumcarcinoma; adenocarcinoma

c.3414G>T; p.Q1138H;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.1448C>A; p.P483H;

endometriumcarcinoma; endometrioid_carcinoma

c.333C>T; p.A111A;

endometriumcarcinoma; endometrioid_carcinoma

c.1869C>T; p.R623R;

endometriumcarcinoma; endometrioid_carcinoma

c.611C>G; p.A204G;

large_intestine; caecumcarcinoma; adenocarcinoma

c.1542C>A; p.L514L;

large_intestine; coloncarcinoma; adenocarcinoma

c.3307C>A; p.L1103M;

endometriumcarcinoma; endometrioid_carcinoma

c.2263C>T; p.R755W;

endometriumcarcinoma; endometrioid_carcinoma

c.1398G>T; p.P466P;

endometriumcarcinoma; endometrioid_carcinoma

c.1431G>C; p.G477G;

endometriumcarcinoma; endometrioid_carcinoma

c.518A>G; p.Q173R;

endometriumcarcinoma; endometrioid_carcinoma

c.308delC; p.P103fs*11;

large_intestine; coloncarcinoma; adenocarcinoma

c.1638G>A; p.P546P;

large_intestine; coloncarcinoma; adenocarcinoma

c.3476C>T; p.A1159V;

endometriumcarcinoma; endometrioid_carcinoma

c.2721G>A; p.Q907Q;

endometriumcarcinoma; endometrioid_carcinoma

c.817G>A; p.A273T;

endometriumcarcinoma; endometrioid_carcinoma

c.1645A>G; p.K549E;

large_intestine; coloncarcinoma; adenocarcinoma

c.1646A>T; p.K549M;

large_intestine; coloncarcinoma; adenocarcinoma

c.1887G>A; p.R629R;

breastcarcinoma

c.3014G>A; p.R1005Q;

large_intestine; rectumcarcinoma; adenocarcinoma

c.795C>T; p.N265N;

large_intestine; coloncarcinoma; adenocarcinoma

c.2704C>T; p.R902W;

large_intestine; caecumcarcinoma; adenocarcinoma

c.2613G>A; p.E871E;

urinary_tract; bladdercarcinoma

c.661A>G; p.I221V;

large_intestine; coloncarcinoma; adenocarcinoma

c.3136G>A; p.E1046K;

urinary_tract; bladdercarcinoma

c.1249C>A; p.P417T;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

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