| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 2037 |
Name | EPB41L2 |
Synonymous | 4.1-G|4.1G;erythrocyte membrane protein band 4.1-like 2;EPB41L2;erythrocyte membrane protein band 4.1-like 2 |
Definition | band 4.1-like protein 2|erythrocyte membrane protein band 4.1 like-protein 2|generally expressed protein 4.1 |
Position | 6q23 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for EPB41L2 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
EPB41L2_intron; chr6; 131211616 |
SUB; INTRON; G; G/A; SOMATIC | RHB; PUTATIVE-HQ; WGS |
EPB41L2_intron; chr6; 131211616 |
SUB; INTRON; G; G/A; SOMATIC | RHB; PUTATIVE-HQ; WGS |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.2925G>A; p.A975A; |
NS | malignant_melanoma |
c.2925G>A; p.A975A; |
NS | malignant_melanoma |
c.2717A>G; p.Y906C; |
lung | carcinoma; small_cell_carcinoma |
c.1988G>A; p.R663H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.605T>G; p.L202R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2041G>T; p.G681W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2122G>T; p.E708*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1079A>G; p.E360G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2408C>T; p.A803V; |
lung | carcinoma; small_cell_carcinoma |
c.210G>T; p.E70D; |
liver | carcinoma |
c.2426C>T; p.T809I; 6:131232577-131232577 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1702C>T; p.P568S; 6:131248060-131248060 |
skin | malignant_melanoma |
c.2733T>A; p.I911I; |
oesophagus | carcinoma; adenocarcinoma |
c.1577G>A; p.R526H; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.1435C>T; p.R479W; |
lung | carcinoma; squamous_cell_carcinoma |
c.1931A>T; p.H644L; |
liver | carcinoma |
c.1326G>A; p.W442*; |
liver | carcinoma |
c.613G>T; p.E205*; |
liver | carcinoma |
c.1935G>T; p.Q645H; |
lung | carcinoma; adenocarcinoma |
c.892C>T; p.P298S; |
lung | carcinoma; adenocarcinoma |
c.311A>T; p.Q104L; |
lung | carcinoma; adenocarcinoma |
c.2010A>T; p.R670R; |
lung | carcinoma; adenocarcinoma |
c.2235_2237delCAG; p.S746delS; |
lung | carcinoma; adenocarcinoma |
c.325G>A; p.E109K; |
skin; extremity | malignant_melanoma |
c.589G>T; p.V197L; |
autonomic_ganglia | neuroblastoma |
c.1546C>A; p.R516S; |
autonomic_ganglia | neuroblastoma |
c.1854A>G; p.E618E; |
autonomic_ganglia | neuroblastoma |
c.2746_2747GG>TT; p.G916F; |
lung | carcinoma; adenocarcinoma |
c.1128A>T; p.A376A; |
lung | carcinoma; squamous_cell_carcinoma |
c.895C>A; p.P299T; |
lung | carcinoma; squamous_cell_carcinoma |
c.953G>C; p.R318P; |
ovary | carcinoma; serous_carcinoma |
c.802G>T; p.E268*; |
lung | carcinoma; adenocarcinoma |
c.1639G>T; p.V547F; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.63T>C; p.D21D; |
lung | carcinoma; adenocarcinoma |
c.323A>G; p.E108G; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1621C>T; p.R541C; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.226C>A; p.R76R; |
lung | carcinoma; squamous_cell_carcinoma |
c.1267G>T; p.V423L; |
lung | carcinoma; adenocarcinoma |
c.892C>T; p.P298S; |
lung | carcinoma; squamous_cell_carcinoma |
c.2775A>G; p.A925A; |
lung | carcinoma; squamous_cell_carcinoma |
c.592C>T; p.Q198*; |
lung | carcinoma; squamous_cell_carcinoma |
c.1383G>A; p.P461P; |
lung | carcinoma; squamous_cell_carcinoma |
c.2795C>T; p.S932F; |
lung | carcinoma; adenocarcinoma |
c.2513_2514TG>AT; p.M838N; |
lung | carcinoma; adenocarcinoma |
c.1452A>G; p.L484L; |
lung | carcinoma; squamous_cell_carcinoma |
c.243G>T; p.W81C; |
lung | carcinoma; adenocarcinoma |
c.1680_1681insA; p.Q561fs*41; |
breast | carcinoma |
c.2546T>G; p.V849G; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1435C>A; p.R479R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1068C>T; p.I356I; |
breast | carcinoma |
c.2881A>C; p.T961P; |
breast | carcinoma |
c.2426C>T; p.T809I; 6:131232577-131232577 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2386G>A; p.E796K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2029C>A; p.L677I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1622G>A; p.R541H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.382G>T; p.D128Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1804G>A; p.A602T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2274C>A; p.P758P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1220A>G; p.D407G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1158G>A; p.S386S; |
breast | carcinoma |
c.2313G>T; p.Q771H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1307G>A; p.R436Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.685G>A; p.E229K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.379G>T; p.G127C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1267G>A; p.V423M; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2427A>G; p.T809T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1069G>A; p.D357N; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2931G>A; p.R977R; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.534A>G; p.K178K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1307G>A; p.R436Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.825T>C; p.P275P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2490C>T; p.H830H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2427A>G; p.T809T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.588A>C; p.E196D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2425A>G; p.T809A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.443C>A; p.P148H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2911G>T; p.A971S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.414G>T; p.E138D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1958G>A; p.R653H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1462_1463delTG; p.C488fs*30; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2257G>A; p.V753M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1622G>A; p.R541H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2289C>T; p.T763T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.838_839delAA; p.K280fs*13; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2426C>T; p.T809I; 6:131232577-131232577 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2318A>G; p.Y773C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2907C>G; p.D969E; |
breast | carcinoma |
c.759C>G; p.L253L; |
breast | carcinoma |
c.2349G>A; p.P783P; |
urinary_tract; bladder | carcinoma |
c.995C>A; p.T332N; |
prostate | carcinoma |
c.2795C>T; p.S932F; |
skin | malignant_melanoma |
c.1546C>T; p.R516C; |
skin | malignant_melanoma |
c.1279G>A; p.G427R; |
skin | malignant_melanoma |
c.2342C>T; p.P781L; |
skin | malignant_melanoma |
c.2789C>T; p.S930F; |
skin | malignant_melanoma |
c.1841C>T; p.S614F; |
skin; mucosal | malignant_melanoma |