| Gene ID | 54345 |
| Symbol | SOX18 |
| Synonymous | HLTS |
| Full name | SRY (sex determining region Y)-box 18 |
| Gene description | SRY-box 18|transcription factor SOX-18 |
| Cytoband | 20q13.33 |
| Gene type | protein-coding |
| Synonymous | MIM:601618; HGNC:HGNC:11194; Ensembl:ENSG00000203883; HPRD:07208; Vega:OTTHUMG00000033017 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.395G>A; p.R132Q; 20:64048926-64048926 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.326A>G; p.D109G; 20:64049191-64049191 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1098C>T; p.I366I; 20:64048223-64048223 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.338C>A; p.A113E; 20:64049179-64049179 |
large_intestine | adenoma | Substitution - Missense |
c.336C>T; p.N112N; 20:64049181-64049181 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.420G>A; p.R140R; 20:64048901-64048901 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.313C>G; p.Q105E; 20:64049204-64049204 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1009C>T; p.R337W; 20:64048312-64048312 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.231C>T; p.R77R; 20:64049286-64049286 |
skin | malignant_melanoma | Substitution - coding silent |
c.434A>G; p.H145R; 20:64048887-64048887 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.434A>G; p.H145R; 20:64048887-64048887 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.318G>T; p.Q106H; 20:64049199-64049199 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.205C>T; p.L69F; 20:64049312-64049312 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.212C>G; p.P71R; 20:64049305-64049305 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.212C>G; p.P71R; 20:64049305-64049305 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1023delC; p.L343fs*23; 20:64048298-64048298 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.975C>T; p.T325T; 20:64048346-64048346 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1039G>A; p.V347M; 20:64048282-64048282 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |