| Gene ID | 6285 |
| Symbol | S100B |
| Synonymous | NEF|S100|S100-B|S100beta |
| Full name | S100 calcium binding protein B |
| Gene description | S-100 calcium-binding protein, beta chain|S-100 protein subunit beta|S100 calcium-binding protein, beta (neural)|protein S100-B |
| Cytoband | 21q22.3 |
| Gene type | protein-coding |
| Synonymous | MIM:176990; HGNC:HGNC:10500; HPRD:01505 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.94G>A; p.E32K; 21:46602322-46602322 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.94G>A; p.E32K; 21:46602322-46602322 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.102G>T; p.K34N; 21:46602314-46602314 |
breast | carcinoma | Substitution - Missense |
c.199G>A; p.G67S; 21:46599443-46599443 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.132C>A; p.F44L; 21:46602284-46602284 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.132C>A; p.F44L; 21:46602284-46602284 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.40G>A; p.V14I; 21:46602376-46602376 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.66G>T; p.E22D; 21:46602350-46602350 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.208G>A; p.D70N; 21:46599434-46599434 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.99G>C; p.L33L; 21:46602317-46602317 |
thyroid | other; neoplasm | Substitution - coding silent |
c.12G>A; p.L4L; 21:46602404-46602404 |
pancreas | carcinoma | Substitution - coding silent |
c.112A>G; p.N38D; 21:46602304-46602304 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.228C>A; p.A76A; 21:46599414-46599414 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.145A>G; p.K49E; 21:46599497-46599497 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.230T>C; p.F77S; 21:46599412-46599412 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.198C>T; p.D66D; 21:46599444-46599444 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.127C>T; p.H43Y; 21:46602289-46602289 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.56C>T; p.S19F; 21:46602360-46602360 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.84G>A; p.L28L; 21:46602332-46602332 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.201C>T; p.G67G; 21:46599441-46599441 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.96A>G; p.E32E; 21:46602320-46602320 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.37G>A; p.D13N; 21:46602379-46602379 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |