| Gene ID | 25794 |
| Symbol | FSCN2 |
| Synonymous | RFSN|RP30 |
| Full name | fascin actin-bundling protein 2, retinal |
| Gene description | fascin homolog 2, actin-bundling protein, retinal|fascin-2 |
| Cytoband | 17q25 |
| Gene type | protein-coding |
| Synonymous | MIM:607643; HGNC:HGNC:3960; Ensembl:ENSG00000186765; HPRD:06366; Vega:OTTHUMG00000167477 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.867C>T; p.H289H; 17:81535092-81535092 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.915delC; p.Y306fs*38; 17:81535140-81535140 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.935A>G; p.Y312C; 17:81535160-81535160 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.794C>T; p.A265V; 17:81529325-81529325 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.416C>A; p.P139Q; 17:81528947-81528947 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.547C>G; p.R183G; 17:81529078-81529078 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.55G>A; p.D19N; 17:81528586-81528586 |
bone; extraskeletal | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.629A>G; p.Y210C; 17:81529160-81529160 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.568G>C; p.D190H; 17:81529099-81529099 |
breast | carcinoma | Substitution - Missense |
c.333C>T; p.F111F; 17:81528864-81528864 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.279G>A; p.L93L; 17:81528810-81528810 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.318G>A; p.P106P; 17:81528849-81528849 |
breast | carcinoma | Substitution - coding silent |
c.1035C>G; p.L345L; 17:81536197-81536197 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.781G>T; p.V261L; 17:81529312-81529312 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.822G>A; p.R274R; 17:81529353-81529353 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.48C>T; p.L16L; 17:81528579-81528579 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.96G>T; p.K32N; 17:81528627-81528627 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1317C>T; p.S439S; 17:81536761-81536761 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1217C>A; p.P406H; 17:81536661-81536661 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.157G>A; p.G53R; 17:81528688-81528688 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1362C>A; p.F454L; 17:81536891-81536891 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.142C>A; p.L48M; 17:81528673-81528673 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1134G>A; p.G378G; 17:81536578-81536578 |
skin | malignant_melanoma | Substitution - coding silent |
c.377C>T; p.S126F; 17:81528908-81528908 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.402C>T; p.H134H; 17:81528933-81528933 |
skin | malignant_melanoma | Substitution - coding silent |
c.778C>T; p.Q260*; 17:81529309-81529309 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.281C>T; p.P94L; 17:81528812-81528812 |
skin | malignant_melanoma | Substitution - Missense |
c.1200C>G; p.L400L; 17:81536644-81536644 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.12C>T; p.N4N; 17:81528543-81528543 |
autonomic_ganglia | neuroblastoma | Substitution - coding silent |
c.734G>A; p.R245Q; 17:81529265-81529265 |
skin | malignant_melanoma | Substitution - Missense |
c.1351G>T; p.D451Y; 17:81536880-81536880 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1411G>C; p.E471Q; 17:81536940-81536940 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1169C>G; p.S390C; 17:81536613-81536613 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.354G>C; p.L118L; 17:81528885-81528885 |
liver | carcinoma | Substitution - coding silent |
c.341C>T; p.T114I; 17:81528872-81528872 |
skin | malignant_melanoma | Substitution - Missense |
c.596G>A; p.R199H; 17:81529127-81529127 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.567T>C; p.C189C; 17:81529098-81529098 |
breast | carcinoma | Substitution - coding silent |
c.19C>A; p.H7N; 17:81528550-81528550 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1431C>T; p.F477F; 17:81536960-81536960 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1400G>C; p.G467A; 17:81536929-81536929 |
pancreas | carcinoma | Substitution - Missense |
c.65G>A; p.R22H; 17:81528596-81528596 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1262G>A; p.R421H; 17:81536706-81536706 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.525C>T; p.L175L; 17:81529056-81529056 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1399G>C; p.G467R; 17:81536928-81536928 |
pancreas | carcinoma | Substitution - Missense |
c.1022G>A; p.R341Q; 17:81536184-81536184 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.879G>T; p.L293L; 17:81535104-81535104 |
kidney | other; neoplasm | Substitution - coding silent |
c.583C>T; p.R195C; 17:81529114-81529114 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.567_568TG>CC; p.D190H; 17:81529098-81529099 |
breast | carcinoma | Substitution - Missense |
c.45C>T; p.G15G; 17:81528576-81528576 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.33G>T; p.K11N; 17:81528564-81528564 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.438G>A; p.V146V; 17:81528969-81528969 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.702C>A; p.P234P; 17:81529233-81529233 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.193C>A; p.L65M; 17:81528724-81528724 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |