| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 64167 |
Name | ERAP2 |
Synonymous | L-RAP|LRAP;endoplasmic reticulum aminopeptidase 2;ERAP2;endoplasmic reticulum aminopeptidase 2 |
Definition | leukocyte-derived arginine aminopeptidase |
Position | 5q15 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for ERAP2 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
ERAP2_I402I; chr5; 96231030 |
SUB; SILENT; C; C/A; SOMATIC | MB; PUTATIVE-HQ; WGS |
ERAP2_G175S; chr5; 96215912 |
SUB; MISSENSE; G; G/A; SOMATIC | RHB; PUTATIVE-HQ; EXOME |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.2189T>A; p.F730Y; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.1150G>T; p.E384*; |
NS | NS |
c.1372-1G>T; p.?; |
lung | carcinoma; small_cell_carcinoma |
c.613C>T; p.R205C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1922A>T; p.D641V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.327C>G; p.I109M; |
ovary | carcinoma; serous_carcinoma |
c.327C>G; p.I109M; |
NS | NS |
c.1457G>A; p.S486N; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.1244A>G; p.D415G; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.131A>G; p.Y44C; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.2878A>G; p.T960A; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.104G>T; p.C35F; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.1901A>G; p.H634R; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.281C>G; p.S94C; |
oesophagus | carcinoma; adenocarcinoma |
c.1301G>A; p.R434H; |
liver | carcinoma |
c.671T>C; p.I224T; |
large_intestine; colon | carcinoma |
c.1073C>T; p.A358V; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.1582C>T; p.L528L; |
lung | carcinoma; adenocarcinoma |
c.1165A>C; p.I389L; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.2740-1G>A; p.?; |
skin; trunk | malignant_melanoma |
c.775A>G; p.M259V; |
lung | carcinoma; large_cell_carcinoma |
c.1947G>C; p.Q649H; |
breast | carcinoma |
c.1149G>A; p.M383I; |
prostate | carcinoma |
c.533G>C; p.G178A; |
central_nervous_system; brain | glioma |
c.1206C>A; p.I402I; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.620C>T; p.A207V; |
skin; upper_leg | malignant_melanoma |
c.805delT; p.C269fs*6; |
skin; axilla | malignant_melanoma |
c.1665C>T; p.D555D; |
prostate | carcinoma |
c.182G>A; p.R61Q; |
lung | carcinoma; squamous_cell_carcinoma |
c.1541G>T; p.C514F; |
lung | carcinoma; squamous_cell_carcinoma |
c.850-2A>T; p.?; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.2753T>G; p.F918C; |
lung | carcinoma; adenocarcinoma |
c.2742G>A; p.V914V; |
lung | carcinoma; adenocarcinoma |
c.1502A>T; p.N501I; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2849C>T; p.P950L; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1115T>C; p.L372P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1413G>T; p.E471D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2620G>A; p.D874N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2166C>A; p.L722L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2740G>A; p.V914M; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1449G>T; p.K483N; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1078G>A; p.D360N; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2657A>C; p.K886T; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1666G>A; p.G556R; |
breast | carcinoma |
c.340G>T; p.D114Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.354G>A; p.T118T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2834T>G; p.L945R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1897G>A; p.V633I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2625T>C; p.F875F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1126_1138del13; p.F377fs*38; |
endometrium | carcinoma; endometrioid_carcinoma |
c.731T>G; p.L244R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2666T>C; p.L889S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2843A>G; p.N948S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2473C>T; p.L825L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2739G>A; p.E913E; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2759C>A; p.S920Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.970+5G>A; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1267G>A; p.E423K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2865G>A; p.W955*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1372-1G>A; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1665C>T; p.D555D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2075G>C; p.S692T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1695C>T; p.R565R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.288G>T; p.K96N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.367C>G; p.Q123E; |
breast | carcinoma |
c.1399G>A; p.D467N; |
skin | malignant_melanoma |
c.1730G>A; p.W577*; |
skin | malignant_melanoma |
c.2773G>A; p.G925R; |
skin; mucosal | malignant_melanoma |
c.457C>T; p.P153S; |
skin; face | carcinoma; squamous_cell_carcinoma |