CIViC Variants
1951 variants indexed
Variant Types
Sequence Ontology (SO) terms describing the molecular consequence of each variant, as curated in CIViC. Hover a bar for the definition.
| CIViC ID | Gene | Variant | HGVS | Type(s) |
|---|---|---|---|---|
| 2586 | PARP1 | OVEREXPRESSION | ||
| 2582 | PAX3::FOXO1 | Fusion PAX3-FOXO1 | transcript_fusion | |
| 2697 | PAX5 | P80R | ||
| 2861 | PAX5::JAK2 | Fusion PAX5-JAK2 | transcript_fusion | |
| 2583 | PAX7::FOXO1 | Fusion PAX7-FOXO1 | transcript_fusion | |
| 683 | PAX8 | Expression | ||
| 209 | PAX8::PPARG | Fusion T(2;3)(Q13;P25),PAX8-PPARG | transcript_fusion | |
| 439 | PBK | NUCLEAR EXPRESSION | ||
| 348 | PBK | OVEREXPRESSION | ||
| 161 | PBRM1 | Mutation | transcription_variant,loss_of_function_variant | |
| 571 | PCM1::JAK2 | Fusion T(8;9)(P22;P24.1),PCM1-JAK2,t(8;9)(p22;p24) | transcript_fusion | |
| 337 | PDCD4 | EXPRESSION | ||
| 2289 | PDE4DIP::NTRK1 | Fusion PDE4DIP-NTRK1 | transcript_fusion | |
| 716 | PDGFRA | Amplification | transcript_amplification | |
| 98 | PDGFRA | D842I ASP842ILE | NC_000004.11:g.55152092_55152093delinsAT,ENST00000257290.5:c.2524_2525delinsAT,NP_006197.1:p.Asp842Ile,NM_006206.5:c.2524_2525delGAinsAT | missense_variant |
| 99 | PDGFRA | D842V ASP842VAL,RS121908585 | NM_006206.4:c.2525A>T,NP_006197.1:p.Asp842Val,ENST00000257290.5:c.2525A>T,NC_000004.11:g.55152093A>T | missense_variant |
| 100 | PDGFRA | D842Y ASP842TYR,RS121913265 | ENST00000257290.5:c.2524G>T,NC_000004.11:g.55152092G>T,NM_006206.5:c.2524G>T,NP_006197.1:p.Asp842Tyr | missense_variant |
| 943 | PDGFRA | D842_H845DELDIMH RS121913259 | inframe_deletion | |
| 102 | PDGFRA | D842_I843delinsVM | NC_000004.11:g.55152093_55152097delinsTCATG | missense_variant |
| 2623 | PDGFRA | Exon 18 Mutation | ||
| 865 | PDGFRA | G853D GLY853ASP,RS763576329 | NM_006206.4:c.2558G>A,NP_006197.1:p.Gly853Asp,NC_000004.11:g.55152126G>A,ENST00000257290.5:c.2558G>A | missense_variant |
| 864 | PDGFRA | H845Y HIS845TYR,RS1057519814 | NM_006206.4:c.2533C>T,NP_006197.1:p.His845Tyr,NC_000004.11:g.55152101C>T,ENST00000257290.5:c.2533C>T | missense_variant |
| 101 | PDGFRA | I843DEL DELI843 | NC_000004.11:g.55152095_55152097del,ENST00000257290.5:c.2527_2529delATC | inframe_deletion |
| 3274 | PDGFRA | Mutation | ||
| 2944 | PDGFRA | Overexpression | ||
| 862 | PDGFRA | P577S PRO577SER,RS1057519811 | NM_006206.4:c.1729C>T,NP_006197.1:p.Pro577Ser,NC_000004.11:g.55141083C>T,ENST00000257290.5:c.1729C>T | missense_variant |
| 863 | PDGFRA | R841K ARG841LYS,RS1057519813 | NM_006206.4:c.2522G>A,NP_006197.1:p.Arg841Lys,NC_000004.11:g.55152090G>A,ENST00000257290.5:c.2522G>A | missense_variant |
| 577 | PDGFRA | T674I THR674ILE,RS121908587 | NC_000004.11:g.55144547C>T,ENST00000257290.5:c.2021C>T,NM_006206.5:c.2021C>T,NP_006197.1:p.Thr674Ile | missense_variant |
| 247 | PDGFRA | V561A VAL561ALA,RS121908586 | ENST00000257290.5:c.1682T>C,NC_000004.11:g.55141036T>C,NM_006206.5:c.1682T>C,NP_006197.1:p.Val561Ala | missense_variant |
| 941 | PDGFRA | V561D RS121908586 | NM_006206.5:c.1682T>A,NP_006197.1:p.Val561Asp,NC_000004.11:g.55141036T>A,ENST00000257290.5:c.1682T>A | missense_variant |
| 5025 | PDGFRB | C843G Cys843Gly,Cys843Gly | ENST00000261799.9:c.2527T>G | missense_variant |
| 2973 | PDGFRB | Overexpression | ||
| 210 | PGR | Expression | ||
| 212 | PIK3CA | Amplification | transcript_amplification | |
| 931 | PIK3CA | C420R RS121913272,CYS420ARG | NM_006218.3:c.1258T>C,NP_006209.2:p.Cys420Arg,NC_000003.11:g.178927980T>C,ENST00000263967.3:c.1258T>C | missense_variant |
| 3337 | PIK3CA | C604R | ||
| 1653 | PIK3CA | D350G ASP350GLY | ENST00000263967.3:c.1049A>G,NC_000003.11:g.178921567A>G,NM_006218.2:c.1049A>G,NP_006209.2:p.Asp350Gly | missense_variant |
| 3338 | PIK3CA | D350N | ||
| 5240 | PIK3CA | E453A | ||
| 5241 | PIK3CA | E453D | ||
| 5242 | PIK3CA | E453G | ||
| 1177 | PIK3CA | E453K | missense_variant | |
| 1205 | PIK3CA | E453Q | missense_variant | |
| 5243 | PIK3CA | E453V | ||
| 5219 | PIK3CA | E542A | ||
| 5220 | PIK3CA | E542D | ||
| 5221 | PIK3CA | E542G | ||
| 103 | PIK3CA | E542K GLU542LYS,RS121913273 | NM_006218.3:c.1624G>A,NP_006209.2:p.Glu542Lys,ENST00000263967.3:c.1624G>A,NC_000003.11:g.178936082G>A | missense_variant |
| 933 | PIK3CA | E542Q RS121913273,GLU542GLN | NM_006218.3:c.1624G>C,NP_006209.2:p.Glu542Gln,NC_000003.11:g.178936082G>C,ENST00000263967.3:c.1624G>C | missense_variant |
| 5222 | PIK3CA | E542R |