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

Basic Information

Gene ID

2035

Name

EPB41

Synonymous

4.1R|EL1|HE;erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked);EPB41;erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)

Definition

EPB4.1|P4.1|band 4.1|erythrocyte surface protein band 4.1|protein 4.1

Position

1p33-p32

Gene Type

protein-coding

Gene Mutation:

PCGP germline mutation
PCGP somatic mutation
COSMIC somatic mutation

PCGP germline mutation   [Top]

There is no record for EPB41

PCGP somatic mutation   [Top]

There is no record for EPB41

COSMIC somatic mutation   [Top]

Mutation (CDS; AA; Chr)

Site

Histology

c.57A>T; p.K19N;

livercarcinoma; hepatocellular_carcinoma

c.1142A>G; p.E381G;

small_intestinecarcinoid-endocrine_tumour

c.372C>T; p.I124I;

oesophaguscarcinoma; adenocarcinoma

c.515A>T; p.Q172L;

lungcarcinoma; adenocarcinoma

c.1711A>T; p.T571S;

lungcarcinoma; adenocarcinoma

c.1161G>A; p.V387V;

lungcarcinoma; adenocarcinoma

c.1868C>T; p.P623L;

lungcarcinoma; adenocarcinoma

c.1484A>T; p.N495I;

lungcarcinoma; adenocarcinoma

c.1693C>G; p.Q565E;

lungcarcinoma; adenocarcinoma

c.1072G>T; p.G358C;

lungcarcinoma; adenocarcinoma

c.966C>T; p.F322F;

NSNS

c.1110_1111insA; p.T373fs*5;

bonechondrosarcoma

c.1705T>C; p.S569P;

ovarycarcinoma; serous_carcinoma

c.1442G>C; p.W481S; 1:29264184-29264184

 ovarycarcinoma; serous_carcinoma

c.787G>T; p.A263S;

lungcarcinoma; squamous_cell_carcinoma

c.1665C>T; p.D555D;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.1491T>A; p.N497K;

ovarycarcinoma; serous_carcinoma

c.1249C>G; p.P417A;

lungcarcinoma; squamous_cell_carcinoma

c.1799C>T; p.T600I;

lungcarcinoma; squamous_cell_carcinoma

c.26A>G; p.D9G;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.443C>G; p.P148R;

breastcarcinoma

c.1237G>A; p.E413K;

endometriumcarcinoma; endometrioid_carcinoma

c.1742delC; p.K582fs*3;

large_intestine; coloncarcinoma; adenocarcinoma

c.1223A>G; p.E408G;

large_intestine; coloncarcinoma; adenocarcinoma

c.1574G>A; p.S525N;

large_intestine; coloncarcinoma; adenocarcinoma

c.603T>C; p.D201D;

large_intestine; caecumcarcinoma; adenocarcinoma

c.1020C>T; p.V340V;

large_intestine; caecumcarcinoma; adenocarcinoma

c.237T>G; p.F79L;

endometriumcarcinoma; endometrioid_carcinoma

c.971G>A; p.R324H;

endometriumcarcinoma; endometrioid_carcinoma

c.1025C>T; p.S342L;

endometriumcarcinoma; endometrioid_carcinoma

c.400G>T; p.E134*;

endometriumcarcinoma; endometrioid_carcinoma

c.1111delA; p.T373fs*11;

large_intestine; caecumcarcinoma; adenocarcinoma

c.1266C>T; p.D422D;

endometriumcarcinoma; endometrioid_carcinoma

c.443C>G; p.P148R;

endometriumcarcinoma; endometrioid_carcinoma

c.1401G>T; p.K467N;

endometriumcarcinoma; endometrioid_carcinoma

c.1591G>T; p.D531Y;

endometriumcarcinoma; endometrioid_carcinoma

c.1338+2T>C; p.?;

large_intestine; coloncarcinoma; adenocarcinoma

c.1817A>G; p.D606G;

large_intestine; coloncarcinoma; adenocarcinoma

c.909G>A; p.R303R;

large_intestine; coloncarcinoma; adenocarcinoma

c.111G>A; p.L37L;

large_intestine; coloncarcinoma; adenocarcinoma

c.252A>G; p.P84P;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.966C>T; p.F322F;

endometriumcarcinoma; endometrioid_carcinoma

c.1475G>A; p.R492Q;

endometriumcarcinoma; endometrioid_carcinoma

c.1442G>T; p.W481L;

large_intestine; coloncarcinoma; adenocarcinoma

c.1785G>C; p.K595N;

urinary_tract; bladdercarcinoma

c.1747-1G>C; p.?;

urinary_tract; bladdercarcinoma

c.1020C>A; p.V340V;

urinary_tract; bladdercarcinoma

c.241C>G; p.P81A;

cervixcarcinoma; squamous_cell_carcinoma

c.1692T>C; p.A564A;

cervixcarcinoma; squamous_cell_carcinoma

c.1451G>A; p.R484H;

large_intestine; coloncarcinoma; adenocarcinoma

c.29_30delAC; p.T11fs*3;

large_intestine; caecumcarcinoma; adenocarcinoma

c.646G>A; p.D216N;

skinmalignant_melanoma

c.874C>T; p.L292F;

skinmalignant_melanoma

c.1606C>T; p.H536Y;

skinmalignant_melanoma

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