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

Basic Information

Gene ID

5395

Name

PMS2

Synonymous

HNPCC4|PMS2CL|PMSL2;PMS2 postmeiotic segregation increased 2 (S. cerevisiae);PMS2;PMS2 postmeiotic segregation increased 2 (S. cerevisiae)

Definition

DNA mismatch repair protein PMS2|H_DJ0042M02.9|PMS1 protein homolog 2|mismatch repair endonuclease PMS2

Position

7p22.2

Gene Type

protein-coding

Gene Mutation:

PCGP germline mutation
PCGP somatic mutation
COSMIC somatic mutation

PCGP germline mutation   [Top]

There is no record for PMS2

PCGP somatic mutation   [Top]

Variant (Variant; Chr; Position)

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

Disease (CancerType; ValidationStatus; SequencingType)

PMS2_R294L; chr7; 6035187

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

COSMIC somatic mutation   [Top]

Mutation (CDS; AA; Chr)

Site

Histology

c.1403T>C; p.L468P;

large_intestinecarcinoma; adenocarcinoma

c.1785A>T; p.V595V;

lungcarcinoma; adenocarcinoma

c.1243G>A; p.V415M;

lungcarcinoma; small_cell_carcinoma

c.1568C>T; p.S523F;

NSmalignant_melanoma

c.1568C>T; p.S523F;

NSmalignant_melanoma

c.1833T>G; p.I611M;

large_intestine; coloncarcinoma; adenocarcinoma

c.1026A>C; p.Q342H;

large_intestine; coloncarcinoma; adenocarcinoma

c.1238_1239insA; p.D414fs*44;

pancreascarcinoma; acinar_carcinoma

c.2149G>A; p.V717M;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.2444C>T; p.S815L;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.1176G>T; p.L392F;

oesophaguscarcinoma; adenocarcinoma

c.1239delA; p.D414fs*34;

stomachcarcinoma; adenocarcinoma

c.1454C>A; p.T485K;

stomachcarcinoma; adenocarcinoma

c.1471G>A; p.E491K;

lungcarcinoma; adenocarcinoma

c.2424C>T; p.A808A;

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinoma

c.2174+1G>A; p.?;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.1339C>T; p.L447L;

skin; armmalignant_melanoma

c.13G>C; p.E5Q;

lungcarcinoma; adenocarcinoma

c.1199A>C; p.Q400P;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.1319C>T; p.P440L;

breastcarcinoma; basal_(triple-negative)_carcinoma

c.1793A>G; p.Q598R;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.556C>T; p.Q186*; 7:6005414-6005414

 central_nervous_system; brainglioma; astrocytoma_Grade_IV

c.2248G>T; p.G750C;

ovarycarcinoma; serous_carcinoma

c.938A>G; p.Y313C;

lungcarcinoma; squamous_cell_carcinoma

c.1687C>T; p.R563*;

lungcarcinoma; squamous_cell_carcinoma

c.99G>A; p.L33L;

lungcarcinoma; squamous_cell_carcinoma

c.538-1G>T; p.?;

lungcarcinoma; squamous_cell_carcinoma

c.1245G>T; p.V415V;

lung; right_lower_lobecarcinoma; adenocarcinoma

c.989-2A>G; p.?;

lung; middle_lobecarcinoma; adenocarcinoma

c.8G>A; p.R3Q;

lungcarcinoma; squamous_cell_carcinoma

c.1346A>G; p.Q449R;

lungcarcinoma; squamous_cell_carcinoma

c.166C>G; p.L56V;

lung; right_lower_lobecarcinoma; adenocarcinoma

c.52A>G; p.I18V;

lungcarcinoma; adenocarcinoma

c.2233A>G; p.I745V;

lung; right_lower_lobecarcinoma; adenocarcinoma

c.494C>T; p.T165I;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.429T>C; p.I143I;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.1455G>A; p.T485T;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.994G>A; p.V332I;

endometriumcarcinoma; endometrioid_carcinoma

c.957A>G; p.P319P;

breastcarcinoma

c.1242C>T; p.D414D;

large_intestine; coloncarcinoma; adenocarcinoma

c.1523T>C; p.I508T;

large_intestine; caecumcarcinoma; adenocarcinoma

c.1522A>C; p.I508L;

large_intestine; caecumcarcinoma; adenocarcinoma

c.681C>T; p.I227I;

large_intestine; coloncarcinoma; adenocarcinoma

c.1261C>T; p.R421*;

large_intestine; caecumcarcinoma; adenocarcinoma

c.993C>T; p.C331C;

large_intestine; coloncarcinoma; adenocarcinoma

c.2127C>T; p.F709F;

large_intestine; caecumcarcinoma; adenocarcinoma

c.2346C>T; p.D782D;

large_intestine; coloncarcinoma; adenocarcinoma

c.901A>C; p.K301Q;

large_intestine; coloncarcinoma; adenocarcinoma

c.2266G>A; p.D756N;

large_intestine; coloncarcinoma; adenocarcinoma

c.631C>T; p.R211*;

large_intestine; coloncarcinoma; adenocarcinoma

c.2445_2445+1GG>CA; p.?;

large_intestine; rectumNS

c.2148C>T; p.T716T;

large_intestine; rectumcarcinoma; adenocarcinoma

c.1086G>A; p.M362I;

large_intestine; rectumcarcinoma; adenocarcinoma

c.1780T>C; p.L594L;

large_intestine; rectumcarcinoma; adenocarcinoma

c.566A>C; p.H189P;

breastcarcinoma

c.2013G>A; p.T671T;

endometriumcarcinoma; endometrioid_carcinoma

c.1883G>A; p.R628Q;

endometriumcarcinoma; endometrioid_carcinoma

c.166C>A; p.L56I;

endometriumcarcinoma; endometrioid_carcinoma

c.1687C>A; p.R563R;

endometriumcarcinoma; endometrioid_carcinoma

c.660C>T; p.S220S;

large_intestine; caecumcarcinoma; adenocarcinoma

c.558G>T; p.Q186H;

large_intestine; coloncarcinoma; adenocarcinoma

c.1905A>G; p.E635E;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.468A>T; p.T156T;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.1295A>G; p.N432S;

endometriumcarcinoma; endometrioid_carcinoma

c.1753C>A; p.L585I;

endometriumcarcinoma; endometrioid_carcinoma

c.193C>A; p.L65I;

endometriumcarcinoma; endometrioid_carcinoma

c.2105C>A; p.A702D;

endometriumcarcinoma; endometrioid_carcinoma

c.2439G>T; p.R813R;

endometriumcarcinoma; endometrioid_carcinoma

c.2013G>A; p.T671T;

endometriumcarcinoma; endometrioid_carcinoma

c.1871C>A; p.S624Y;

endometriumcarcinoma; endometrioid_carcinoma

c.684C>T; p.G228G;

endometriumcarcinoma; endometrioid_carcinoma

c.229G>T; p.E77*;

endometriumcarcinoma; endometrioid_carcinoma

c.863A>G; p.Q288R;

endometriumcarcinoma; endometrioid_carcinoma

c.1423G>A; p.V475M;

large_intestine; caecumcarcinoma; adenocarcinoma

c.2248G>T; p.G750C;

large_intestine; coloncarcinoma; adenocarcinoma

c.2426C>A; p.S809Y;

endometriumcarcinoma; endometrioid_carcinoma

c.1732C>T; p.R578C;

endometriumcarcinoma; endometrioid_carcinoma

c.713G>T; p.S238I;

endometriumcarcinoma; endometrioid_carcinoma

c.1718C>A; p.T573N;

endometriumcarcinoma; endometrioid_carcinoma

c.992G>A; p.C331Y;

endometriumcarcinoma; endometrioid_carcinoma

c.1034T>C; p.L345P;

large_intestine; coloncarcinoma; adenocarcinoma

c.1390G>A; p.D464N;

urinary_tract; bladdercarcinoma

c.558G>A; p.Q186Q;

large_intestine; rectumcarcinoma; adenocarcinoma

c.684C>A; p.G228G;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.2149G>A; p.V717M;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.661C>T; p.P221S;

skinmalignant_melanoma

c.827G>A; p.C276Y;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.473G>A; p.S158N;

stomachadenocarcinoma

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