| Gene ID | 1072 |
| Symbol | CFL1 |
| Synonymous | CFL|HEL-S-15 |
| Full name | cofilin 1 (non-muscle) |
| Gene description | 18 kDa phosphoprotein|cofilin, non-muscle isoform|cofilin-1|epididymis secretory protein Li 15|p18 |
| Cytoband | 11q13 |
| Gene type | protein-coding |
| Synonymous | MIM:601442; HGNC:HGNC:1874; Ensembl:ENSG00000172757; HPRD:03261 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.438C>A; p.R146R; 11:65855399-65855399 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.62G>A; p.R21H; 11:65856184-65856184 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.411A>G; p.A137A; 11:65855426-65855426 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - coding silent |
c.174C>T; p.G58G; 11:65856072-65856072 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.452A>T; p.E151V; 11:65855385-65855385 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.444C>T; p.T148T; 11:65855393-65855393 |
stomach | adenocarcinoma | Substitution - coding silent |
c.144_145CC>TT; p.(=); 11:65856101-65856102 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.178G>A; p.V60M; 11:65856068-65856068 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.336G>A; p.K112K; 11:65855706-65855706 |
pancreas | carcinoma | Substitution - coding silent |
c.160G>C; p.E54Q; 11:65856086-65856086 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.331C>T; p.L111F; 11:65855711-65855711 |
skin | malignant_melanoma | Substitution - Missense |
c.41T>G; p.V14G; 11:65856205-65856205 |
breast | carcinoma | Substitution - Missense |
c.312-1G>A; p.?; 11:65855731-65855731 |
central_nervous_system; brain | glioma | Unknown |
c.290A>C; p.E97A; 11:65855956-65855956 |
NS | malignant_melanoma | Substitution - Missense |
c.290A>C; p.E97A; 11:65855956-65855956 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.290A>C; p.E97A; 11:65855956-65855956 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.4-1G>T; p.?; 11:65856243-65856243 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.139A>G; p.I47V; 11:65856107-65856107 |
liver | carcinoma | Substitution - Missense |
c.480C>T; p.S160S; 11:65855357-65855357 |
skin | malignant_melanoma | Substitution - coding silent |
c.357C>T; p.S119S; 11:65855685-65855685 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.106G>A; p.V36M; 11:65856140-65856140 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.357C>A; p.S119R; 11:65855685-65855685 |
skin | malignant_melanoma | Substitution - Missense |
c.283A>C; p.K95Q; 11:65855963-65855963 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.198C>T; p.D66D; 11:65856048-65856048 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.86T>C; p.V29A; 11:65856160-65856160 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.257A>G; p.D86G; 11:65855989-65855989 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.247G>A; p.A83T; 11:65855999-65855999 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.227C>T; p.P76L; 11:65856019-65856019 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |