| Gene ID | 8613 |
| Symbol | PPAP2B |
| Synonymous | Dri42|LPP3|PAP2B|VCIP |
| Full name | phosphatidic acid phosphatase type 2B |
| Gene description | PAP2 beta|lipid phosphate phosphohydrolase 3|phosphatidate phosphohydrolase type 2b|type-2 phosphatidic acid phosphatase-beta|vascular endothelial growth factor and type I collagen inducible |
| Cytoband | 1p32.2 |
| Gene type | protein-coding |
| Synonymous | MIM:607125; HGNC:HGNC:9229; Ensembl:ENSG00000162407; HPRD:06179; Vega:OTTHUMG00000008160 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.353T>A; p.I118N; 1:56524499-56524499 |
liver | carcinoma | Substitution - Missense |
c.353T>A; p.I118N; 1:56524499-56524499 |
liver | carcinoma | Substitution - Missense |
c.454G>T; p.G152W; 1:56524398-56524398 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.819C>T; p.F273F; 1:56496668-56496668 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.457C>T; p.R153C; 1:56524395-56524395 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.457C>T; p.R153C; 1:56524395-56524395 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.730T>G; p.S244A; 1:56512056-56512056 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.457C>T; p.R153C; 1:56524395-56524395 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.457C>T; p.R153C; 1:56524395-56524395 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.350C>T; p.T117M; 1:56524502-56524502 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.575G>T; p.R192M; 1:56524277-56524277 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.880G>A; p.E294K; 1:56496607-56496607 |
skin | malignant_melanoma | Substitution - Missense |
c.764A>G; p.D255G; 1:56512022-56512022 |
skin | malignant_melanoma | Substitution - Missense |
c.880G>A; p.E294K; 1:56496607-56496607 |
skin | malignant_melanoma | Substitution - Missense |
c.50G>C; p.G17A; 1:56578967-56578967 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.297G>A; p.A99A; 1:56536955-56536955 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.297G>A; p.A99A; 1:56536955-56536955 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.297G>A; p.A99A; 1:56536955-56536955 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.680G>T; p.R227L; 1:56512106-56512106 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.733C>T; p.R245C; 1:56512053-56512053 |
skin | malignant_melanoma | Substitution - Missense |
c.733C>T; p.R245C; 1:56512053-56512053 |
skin | malignant_melanoma | Substitution - Missense |
c.733C>T; p.R245C; 1:56512053-56512053 |
skin | malignant_melanoma | Substitution - Missense |
c.336G>T; p.K112N; 1:56524516-56524516 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.360C>T; p.N120N; 1:56524492-56524492 |
skin | malignant_melanoma | Substitution - coding silent |
c.261G>A; p.V87V; 1:56536991-56536991 |
liver | carcinoma | Substitution - coding silent |
c.576G>A; p.R192R; 1:56523880-56523880 |
skin | malignant_melanoma | Substitution - coding silent |
c.581C>T; p.S194F; 1:56523875-56523875 |
skin | malignant_melanoma | Substitution - Missense |
c.585C>A; p.F195L; 1:56523871-56523871 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.379T>A; p.Y127N; 1:56524473-56524473 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.321G>A; p.R107R; 1:56524531-56524531 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.310G>A; p.E104K; 1:56524542-56524542 |
skin | malignant_melanoma | Substitution - Missense |
c.477G>A; p.L159L; 1:56524375-56524375 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.279C>T; p.I93I; 1:56536973-56536973 |
skin; trunk | malignant_melanoma; nodular | Substitution - coding silent |
c.294C>T; p.L98L; 1:56536958-56536958 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.890C>T; p.S297L; 1:56496597-56496597 |
skin | malignant_melanoma | Substitution - Missense |
c.745C>T; p.H249Y; 1:56512041-56512041 |
skin | malignant_melanoma | Substitution - Missense |
c.343C>T; p.R115W; 1:56524509-56524509 |
lung | carcinoma; bronchioloalveolar_adenocarcinoma | Substitution - Missense |
c.633G>C; p.V211V; 1:56523823-56523823 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.305C>T; p.T102M; 1:56524547-56524547 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.181C>T; p.P61S; 1:56537071-56537071 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.517G>A; p.E173K; 1:56524335-56524335 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.874C>T; p.R292W; 1:56496613-56496613 |
skin | malignant_melanoma | Substitution - Missense |
c.400C>A; p.L134I; 1:56524452-56524452 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.814T>C; p.F272L; 1:56496673-56496673 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.874C>T; p.R292W; 1:56496613-56496613 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.191G>A; p.R64Q; 1:56537061-56537061 |
skin | malignant_melanoma | Substitution - Missense |
c.458G>A; p.R153H; 1:56524394-56524394 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.191G>A; p.R64Q; 1:56537061-56537061 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.208G>A; p.D70N; 1:56537044-56537044 |
skin | malignant_melanoma | Substitution - Missense |
c.503A>T; p.Q168L; 1:56524349-56524349 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.662G>A; p.R221Q; 1:56512124-56512124 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.754C>A; p.H252N; 1:56512032-56512032 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.705C>T; p.I235I; 1:56512081-56512081 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.841A>T; p.K281*; 1:56496646-56496646 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.207T>A; p.N69K; 1:56537045-56537045 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.177C>G; p.I59M; 1:56537075-56537075 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.642G>C; p.L214L; 1:56512144-56512144 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.264C>T; p.L88L; 1:56536988-56536988 |
skin | malignant_melanoma | Substitution - coding silent |
c.285T>A; p.I95I; 1:56536967-56536967 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.723G>A; p.T241T; 1:56512063-56512063 |
skin | malignant_melanoma | Substitution - coding silent |
c.262C>T; p.L88F; 1:56536990-56536990 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.723G>A; p.T241T; 1:56512063-56512063 |
skin | malignant_melanoma | Substitution - coding silent |
c.367G>A; p.V123M; 1:56524485-56524485 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.153C>T; p.F51F; 1:56537099-56537099 |
skin | malignant_melanoma | Substitution - coding silent |
c.498C>T; p.F166F; 1:56524354-56524354 |
skin | malignant_melanoma | Substitution - coding silent |
c.763G>T; p.D255Y; 1:56512023-56512023 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.863C>T; p.A288V; 1:56496624-56496624 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |