| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 5341 |
Name | PLEK |
Synonymous | P47;pleckstrin;PLEK;pleckstrin |
Definition | platelet 47 kDa protein |
Position | 2p13.3 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for PLEK | ||
PCGP somatic mutation [Top] | ||
There is no record for PLEK | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.520C>T; p.R174C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.356G>A; p.R119Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.978C>A; p.F326L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.218C>A; p.T73K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.226C>G; p.Q76E; |
oesophagus | carcinoma; adenocarcinoma |
c.475A>C; p.N159H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.144C>T; p.I48I; |
skin; trunk | malignant_melanoma; nodular |
c.859C>A; p.L287M; |
lung | carcinoma; adenocarcinoma |
c.876G>C; p.L292F; |
lung | carcinoma; adenocarcinoma |
c.394T>G; p.S132A; |
lung | carcinoma; adenocarcinoma |
c.847G>C; p.A283P; |
lung | carcinoma; adenocarcinoma |
c.254T>G; p.F85C; |
lung | carcinoma; adenocarcinoma |
c.738C>G; p.I246M; |
lung | carcinoma; adenocarcinoma |
c.338C>A; p.S113Y; |
autonomic_ganglia | neuroblastoma |
c.419T>G; p.I140R; |
liver | carcinoma |
c.218C>T; p.T73M; |
central_nervous_system; brain | glioma |
c.832T>A; p.Y278N; |
endometrium | carcinoma; serous_carcinoma |
c.249A>T; p.A83A; |
ovary | carcinoma; serous_carcinoma |
c.329C>A; p.A110D; |
lung | carcinoma; adenocarcinoma |
c.235C>A; p.H79N; |
lung | carcinoma; adenocarcinoma |
c.109A>T; p.K37*; |
lung | carcinoma; squamous_cell_carcinoma |
c.670T>C; p.F224L; 2:68469035-68469035 |
ovary | carcinoma; serous_carcinoma |
c.911C>T; p.S304L; |
lung | carcinoma; squamous_cell_carcinoma |
c.871C>T; p.H291Y; |
lung | carcinoma; squamous_cell_carcinoma |
c.44G>C; p.G15A; |
lung | carcinoma; adenocarcinoma |
c.351C>G; p.S117S; |
lung | carcinoma; squamous_cell_carcinoma |
c.1030A>C; p.M344L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.691A>G; p.S231G; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.483C>A; p.V161V; |
ovary | carcinoma; serous_carcinoma |
c.160A>T; p.T54S; |
lung | carcinoma; adenocarcinoma |
c.343A>T; p.R115W; |
lung | carcinoma; adenocarcinoma |
c.170G>A; p.S57N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1004G>A; p.R335H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.218C>T; p.T73M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.59C>T; p.T20M; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.487G>T; p.D163Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.670T>C; p.F224L; 2:68469035-68469035 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.713_715delAAG; p.E240delE; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1040G>A; p.R347Q; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.695A>G; p.D232G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.992delC; p.K333fs*>18; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.302A>C; p.K101T; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.392T>C; p.L131S; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.323A>C; p.K108T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.492G>T; p.W164C; |
breast | carcinoma |
c.361C>A; p.P121T; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.424G>A; p.E142K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.856C>T; p.P286S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.105C>A; p.F35L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.936G>T; p.E312D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.45G>C; p.G15G; |
breast | carcinoma |
c.328G>A; p.A110T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.114G>T; p.K38N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.355C>T; p.R119*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.424G>T; p.E142*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.565T>A; p.Y189N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.794A>C; p.K265T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.245A>G; p.Q82R; |
urinary_tract; bladder | carcinoma |
c.616G>A; p.E206K; |
skin | malignant_melanoma |
c.964G>A; p.E322K; |
skin | malignant_melanoma |
c.871C>T; p.H291Y; |
skin | malignant_melanoma |
c.268G>A; p.D90N; |
skin | malignant_melanoma |
c.276G>C; p.W92C; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.59C>T; p.T20M; |
stomach | adenocarcinoma |