| Gene ID | 708 |
| Symbol | C1QBP |
| Synonymous | GC1QBP|HABP1|SF2p32|gC1Q-R|gC1qR|p32 |
| Full name | complement component 1, q subcomponent binding protein |
| Gene description | ASF/SF2-associated protein p32|C1q globular domain-binding protein|complement component 1 Q subcomponent-binding protein, mitochondrial|glycoprotein gC1qBP|hyaluronan-binding protein 1|mitochondrial matrix protein p32|p33|splicing factor SF2-associated pr |
| Cytoband | 17p13.3 |
| Gene type | protein-coding |
| Synonymous | MIM:601269; HGNC:HGNC:1243; Ensembl:ENSG00000108561; HPRD:03168; Vega:OTTHUMG00000177875 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.835G>A; p.V279I; 17:5433029-5433029 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.835G>A; p.V279I; 17:5433029-5433029 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.517A>G; p.I173V; 17:5433728-5433728 |
liver | carcinoma | Substitution - Missense |
c.517A>G; p.I173V; 17:5433728-5433728 |
liver | carcinoma | Substitution - Missense |
c.573T>C; p.D191D; 17:5433672-5433672 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.449C>T; p.S150L; 17:5434901-5434901 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.634C>G; p.Q212E; 17:5433358-5433358 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.258G>A; p.L86L; 17:5438248-5438248 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.375C>G; p.A125A; 17:5438131-5438131 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.777C>T; p.L259L; 17:5433087-5433087 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.481G>A; p.E161K; 17:5433764-5433764 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.609C>A; p.I203I; 17:5433383-5433383 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.616A>G; p.I206V; 17:5433376-5433376 |
kidney | other; neoplasm | Substitution - Missense |
c.415A>G; p.I139V; 17:5434935-5434935 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.422C>T; p.P141L; 17:5434928-5434928 |
skin | malignant_melanoma | Substitution - Missense |
c.331C>T; p.L111L; 17:5438175-5438175 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.245T>C; p.F82S; 17:5438261-5438261 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.399C>T; p.F133F; 17:5434951-5434951 |
skin | malignant_melanoma | Substitution - coding silent |
c.375C>A; p.A125A; 17:5438131-5438131 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.342T>C; p.N114N; 17:5438164-5438164 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.619A>C; p.R207R; 17:5433373-5433373 |
pancreas | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.505G>A; p.V169M; 17:5433740-5433740 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.313A>T; p.M105L; 17:5438193-5438193 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |