Cancer metastasis database

Annotation category 5

Gene information

Gene ID 5423
Symbol

POLB

Synonymous

-

Full name

polymerase (DNA directed), beta

Gene description

DNA pol beta|DNA polymerase beta|DNA polymerase beta subunit|mutant DNA polymerase beta

Cytoband

8p11.2

Gene type

protein-coding

Synonymous

MIM:174760; HGNC:HGNC:9174; Ensembl:ENSG00000070501; HPRD:07517; Vega:OTTHUMG00000164093

COSMIC somatic mutation

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.751C>T; p.P251S; 8:42369313-42369313

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.633A>G; p.L211L; 8:42362623-42362623

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.681C>G; p.T227T; 8:42362671-42362671

 skinmalignant_melanomaSubstitution - coding silent

c.947delA; p.D318fs*>18; 8:42371596-42371596

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.947delA; p.D318fs*>18; 8:42371596-42371596

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.49G>A; p.D17N; 8:42338673-42338673

 thyroidcarcinomaSubstitution - Missense

c.999G>C; p.R333R; 8:42371648-42371648

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.640G>T; p.V214F; 8:42362630-42362630

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.99C>T; p.I33I; 8:42339049-42339049

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.238G>A; p.G80R; 8:42349067-42349067

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.496G>C; p.V166L; 8:42357338-42357338

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.647A>G; p.E216G; 8:42362637-42362637

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.373C>A; p.L125I; 8:42355518-42355518

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.257A>G; p.E86G; 8:42349086-42349086

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.319G>T; p.G107C; 8:42350064-42350064

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.842A>G; p.N281S; 8:42369917-42369917

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.545G>A; p.R182K; 8:42357387-42357387

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.802G>T; p.G268C; 8:42369877-42369877

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.479A>G; p.D160G; 8:42357321-42357321

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.512C>T; p.S171F; 8:42357354-42357354

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.253C>G; p.L85V; 8:42349082-42349082

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.109A>C; p.N37H; 8:42339059-42339059

 livercarcinomaSubstitution - Missense

c.454C>T; p.R152C; 8:42357200-42357200

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.131C>G; p.S44C; 8:42344964-42344964

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.721C>T; p.L241F; 8:42369283-42369283

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.966C>G; p.Y322*; 8:42371615-42371615

 livercarcinomaSubstitution - Nonsense

c.966C>G; p.Y322*; 8:42371615-42371615

 livercarcinomaSubstitution - Nonsense

c.54G>A; p.M18I; 8:42338678-42338678

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.247C>T; p.R83C; 8:42349076-42349076

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.247C>T; p.R83C; 8:42349076-42349076

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.370+7A>G; p.?; 8:42352575-42352575

 livercarcinomaUnknown

c.387A>T; p.E129D; 8:42355532-42355532

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.574G>C; p.D192H; 8:42361318-42361318

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.925G>T; p.E309*; 8:42371574-42371574

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.728G>T; p.S243I; 8:42369290-42369290

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.895C>T; p.R299C; 8:42369970-42369970

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.929C>T; p.P310L; 8:42371578-42371578

 skinmalignant_melanomaSubstitution - Missense

c.45C>T; p.I15I; 8:42338669-42338669

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.672C>G; p.I224M; 8:42362662-42362662

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.998G>A; p.R333Q; 8:42371647-42371647

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.800G>T; p.C267F; 8:42369875-42369875

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.248G>A; p.R83H; 8:42349077-42349077

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.862G>A; p.E288K; 8:42369937-42369937

 breastcarcinomaSubstitution - Missense

c.211G>A; p.E71K; 8:42349040-42349040

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.455G>C; p.R152P; 8:42357201-42357201

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.120-1G>C; p.?; 8:42344952-42344952

 breastcarcinoma; HER-positive_carcinomaUnknown

c.961G>A; p.D321N; 8:42371610-42371610

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense