| Gene ID | 10016 |
| Symbol | PDCD6 |
| Synonymous | ALG-2|ALG2|PEF1B |
| Full name | programmed cell death 6 |
| Gene description | apoptosis-linked gene 2 protein|probable calcium-binding protein ALG-2|programmed cell death protein 6 |
| Cytoband | 5p15.33 |
| Gene type | protein-coding |
| Synonymous | MIM:601057; HGNC:HGNC:8765; Ensembl:ENSG00000249915; HPRD:03035; Vega:OTTHUMG00000090283 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.367G>A; p.G123S; 5:306760-306760 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.250G>C; p.E84Q; 5:306643-306643 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.154C>G; p.L52V; 5:272763-272763 |
breast | carcinoma | Substitution - Missense |
c.360A>G; p.S120S; 5:306753-306753 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.23_34del12; p.A12_G15delAGPG; 5:271743-271754 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Deletion - In frame |
c.23_34del12; p.A12_G15delAGPG; 5:271743-271754 |
breast | carcinoma | Deletion - In frame |
c.247A>G; p.S83G; 5:306640-306640 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.291C>T; p.N97N; 5:306684-306684 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.427C>T; p.R143W; 5:311352-311352 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1delA; p.?; 5:271721-271721 |
prostate | carcinoma; adenocarcinoma | Unknown |
c.235G>A; p.G79S; 5:306628-306628 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.312G>T; p.R104R; 5:306705-306705 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.24C>T; p.P8P; 5:271744-271744 |
skin | malignant_melanoma | Substitution - coding silent |
c.220C>A; p.R74S; 5:306613-306613 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.500G>A; p.R167H; 5:314439-314439 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.259G>A; p.G87S; 5:306652-306652 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.367+1G>A; p.?; 5:306761-306761 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.259G>T; p.G87C; 5:306652-306652 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.460G>A; p.G154S; 5:311385-311385 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.306C>A; p.Y102*; 5:306699-306699 |
pleura | pulmonary_blastoma | Substitution - Nonsense |
c.271T>C; p.Y91H; 5:306664-306664 |
ovary | carcinoma | Substitution - Missense |
c.438T>C; p.I146I; 5:311363-311363 |
thyroid | other; neoplasm | Substitution - coding silent |
c.438T>C; p.I146I; 5:311363-311363 |
breast | carcinoma | Substitution - coding silent |
c.438T>C; p.I146I; 5:311363-311363 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.303G>T; p.T101T; 5:306696-306696 |
lung | carcinoma; small_cell_carcinoma | Substitution - coding silent |
c.330C>T; p.I110I; 5:306723-306723 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.367G>T; p.G123C; 5:306760-306760 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.553T>A; p.S185T; 5:314492-314492 |
liver | carcinoma | Substitution - Missense |
c.553T>A; p.S185T; 5:314492-314492 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.139G>A; p.E47K; 5:272748-272748 |
breast | carcinoma | Substitution - Missense |