| Gene ID | 6670 |
| Symbol | SP3 |
| Synonymous | SPR2 |
| Full name | Sp3 transcription factor |
| Gene description | GC-binding transcription factor Sp3|specificity protein 3|transcription factor Sp3 |
| Cytoband | 2q31 |
| Gene type | protein-coding |
| Synonymous | MIM:601804; HGNC:HGNC:11208; Ensembl:ENSG00000172845; HPRD:03483; Vega:OTTHUMG00000132333 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.623C>T; p.P208L; 2:173955889-173955889 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1566_1569delAACA; p.T523fs*3; 2:173954943-173954946 |
NS | NS | Deletion - Frameshift |
c.1786C>T; p.R596W; 2:173918639-173918639 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.490A>G; p.T164A; 2:173956022-173956022 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.817G>A; p.D273N; 2:173955695-173955695 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.648C>T; p.A216A; 2:173955864-173955864 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1928G>A; p.R643H; 2:173913171-173913171 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.337T>A; p.S113T; 2:173956175-173956175 |
NS | NS | Substitution - Missense |
c.2310G>A; p.Q770Q; 2:173909977-173909977 |
skin | malignant_melanoma | Substitution - coding silent |