| Gene ID | 29108 |
| Symbol | PYCARD |
| Synonymous | ASC|CARD5|TMS|TMS-1|TMS1 |
| Full name | PYD and CARD domain containing |
| Gene description | apoptosis-associated speck-like protein containing a CARD|caspase recruitment domain-containing protein 5|target of methylation-induced silencing 1 |
| Cytoband | 16p11.2 |
| Gene type | protein-coding |
| Synonymous | MIM:606838; HGNC:HGNC:16608; Ensembl:ENSG00000103490; HPRD:06020; Vega:OTTHUMG00000176753 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.411C>A; p.Y137*; 16:31201762-31201762 |
pancreas | carcinoma | Substitution - Nonsense |
c.237G>T; p.Q79H; 16:31202454-31202454 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.100G>A; p.E34K; 16:31202591-31202591 |
NS | NS | Substitution - Missense |
c.352C>A; p.H118N; 16:31201821-31201821 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.285C>T; p.A95A; 16:31202193-31202193 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.55G>T; p.E19*; 16:31202636-31202636 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.45G>A; p.L15L; 16:31202646-31202646 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - coding silent |
c.318G>A; p.S106S; 16:31202160-31202160 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.433C>T; p.Q145*; 16:31201740-31201740 |
breast | carcinoma | Substitution - Nonsense |
c.349C>A; p.Q117K; 16:31201824-31201824 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.478C>T; p.R160W; 16:31201695-31201695 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.438C>T; p.Y146Y; 16:31201735-31201735 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.535C>T; p.Q179*; 16:31201638-31201638 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.484C>T; p.L162F; 16:31201689-31201689 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.585C>A; p.S195R; 16:31201588-31201588 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.304G>A; p.A102T; 16:31202174-31202174 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.276C>A; p.G92G; 16:31202202-31202202 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.474G>C; p.K158N; 16:31201699-31201699 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.513G>C; p.W171C; 16:31201660-31201660 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |