| Gene ID | 23406 |
| Symbol | COTL1 |
| Synonymous | CLP |
| Full name | coactosin-like F-actin binding protein 1 |
| Gene description | coactosin-like 1|coactosin-like protein |
| Cytoband | 16q24.1 |
| Gene type | protein-coding |
| Synonymous | MIM:606748; HGNC:HGNC:18304; Ensembl:ENSG00000103187; HPRD:09482; Vega:OTTHUMG00000137634 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.188G>C; p.R63P; 16:84590235-84590235 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.324C>T; p.F108F; 16:84566950-84566950 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.324C>T; p.F108F; 16:84566950-84566950 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.324C>T; p.F108F; 16:84566950-84566950 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.363G>A; p.E121E; 16:84566911-84566911 |
liver | carcinoma | Substitution - coding silent |
c.363G>A; p.E121E; 16:84566911-84566911 |
liver | carcinoma | Substitution - coding silent |
c.363G>A; p.E121E; 16:84566911-84566911 |
skin | malignant_melanoma | Substitution - coding silent |
c.230C>T; p.A77V; 16:84590193-84590193 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.144C>G; p.F48L; 16:84617517-84617517 |
breast | carcinoma | Substitution - Missense |
c.246C>T; p.I82I; 16:84590177-84590177 |
skin | malignant_melanoma | Substitution - coding silent |
c.359T>A; p.L120Q; 16:84566915-84566915 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.274G>A; p.A92T; 16:84590149-84590149 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.274G>A; p.A92T; 16:84590149-84590149 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.234C>T; p.L78L; 16:84590189-84590189 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.198C>T; p.T66T; 16:84590225-84590225 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.289G>T; p.D97Y; 16:84590134-84590134 |
breast | carcinoma | Substitution - Missense |
c.308A>G; p.E103G; 16:84590115-84590115 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.390G>A; p.K130K; 16:84566884-84566884 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.422C>T; p.T141M; 16:84566852-84566852 |
pancreas | carcinoma | Substitution - Missense |
c.422C>T; p.T141M; 16:84566852-84566852 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.411C>T; p.Y137Y; 16:84566863-84566863 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.411C>T; p.Y137Y; 16:84566863-84566863 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.343A>C; p.S115R; 16:84566931-84566931 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.148C>T; p.Q50*; 16:84617513-84617513 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.380G>T; p.S127I; 16:84566894-84566894 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.147C>T; p.I49I; 16:84617514-84617514 |
skin | malignant_melanoma | Substitution - coding silent |
c.413A>G; p.D138G; 16:84566861-84566861 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.174G>C; p.L58F; 16:84590249-84590249 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.401delG; p.G134fs*>9; 16:84566873-84566873 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.429A>C; p.*143Y; 16:84566845-84566845 |
skin | malignant_melanoma | Nonstop extension |
c.429A>C; p.*143Y; 16:84566845-84566845 |
skin | malignant_melanoma | Nonstop extension |
c.375C>G; p.I125M; 16:84566899-84566899 |
liver | carcinoma | Substitution - Missense |
c.256G>A; p.V86I; 16:84590167-84590167 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |