| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 7430 |
Name | EZR |
Synonymous | CVIL|CVL|VIL2;ezrin;EZR;ezrin |
Definition | cytovillin 2|p81|villin 2 (ezrin)|villin-2 |
Position | 6q25.3 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for EZR | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
EZR_E334_R335fs; chr6; 159191883 |
DEL; FRAMESHIFT; TCTC; TCTC/-; SOMATIC | RHB; PUTATIVE-HQ; EXOME |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.268G>A; p.A90T; |
liver | carcinoma; hepatocellular_carcinoma |
c.73A>G; p.T25A; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.73A>G; p.T25A; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.756_757insA; p.F255fs*4; |
lung | carcinoma; non_small_cell_carcinoma |
c.97-8_97-7deltc; p.?; |
NS | malignant_melanoma |
c.1661A>G; p.H554R; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1439C>T; p.P480L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1157C>T; p.A386V; |
pancreas | carcinoma; acinar_carcinoma |
c.1479C>T; p.G493G; |
liver | carcinoma |
c.996C>T; p.T332T; |
oesophagus | carcinoma; adenocarcinoma |
c.1536C>T; p.R512R; |
oesophagus | carcinoma; adenocarcinoma |
c.997G>A; p.V333M; |
lung | carcinoma; adenocarcinoma |
c.997G>A; p.V333M; |
lung | carcinoma; adenocarcinoma |
c.1661A>G; p.H554R; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.997G>T; p.V333L; |
lung | carcinoma; adenocarcinoma |
c.1063G>T; p.E355*; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.1476G>C; p.E492D; |
lung | carcinoma; adenocarcinoma |
c.1490C>T; p.T497M; |
autonomic_ganglia | neuroblastoma |
c.595G>A; p.E199K; |
prostate | carcinoma |
c.224C>T; p.P75L; |
skin; upper_leg | malignant_melanoma |
c.195G>T; p.V65V; 6:159126601-159126601 |
ovary | carcinoma; serous_carcinoma |
c.456G>A; p.L152L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1545G>C; p.E515D; |
ovary | carcinoma; serous_carcinoma |
c.1650T>A; p.N550K; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.1140G>T; p.K380N; |
breast | carcinoma |
c.241C>T; p.R81W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1163G>A; p.R388H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1661A>G; p.H554R; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.877C>T; p.R293C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.744C>A; p.I248I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1756C>A; p.L586M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.989G>C; p.R330T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1277C>T; p.A426V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.801delT; p.F267fs*8; |
breast | carcinoma |
c.746C>T; p.S249F; |
breast | carcinoma |
c.1048C>A; p.R350R; |
prostate | carcinoma; adenocarcinoma |
c.179A>T; p.K60M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1500C>T; p.S500S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.414C>T; p.N138N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1608C>T; p.S536S; |
breast | carcinoma |
c.586C>T; p.Q196*; |
urinary_tract; bladder | carcinoma |
c.1077G>C; p.K359N; |
urinary_tract; bladder | carcinoma |
c.900C>G; p.I300M; |
urinary_tract; bladder | carcinoma |
c.325G>C; p.G109R; |
urinary_tract; bladder | carcinoma |