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) |
|---|---|---|---|---|
| 5236 | PIK3CA | N345S | ||
| 5237 | PIK3CA | N345T | ||
| 5238 | PIK3CA | N345Y | ||
| 2362 | PIK3CA | Overexpression | ||
| 294 | PIK3CA | P471L PRO471LEU,RS1057519872 | NC_000003.11:g.178928226C>T,ENST00000263967.3:c.1412C>T,NM_006218.3:c.1412C>T,NP_006209.2:p.Pro471Leu | missense_variant |
| 886 | PIK3CA | Q546E RS121913286,GLN546GLU | NM_006218.3:c.1636C>G,NP_006209.2:p.Gln546Glu,NC_000003.11:g.178936094C>G,ENST00000263967.3:c.1636C>G | missense_variant |
| 5226 | PIK3CA | Q546H | ||
| 885 | PIK3CA | Q546K RS121913286,GLN546LYS | NM_006218.3:c.1636C>A,NP_006209.2:p.Gln546Lys,NC_000003.11:g.178936094C>A,ENST00000263967.3:c.1636C>A | missense_variant |
| 889 | PIK3CA | Q546L | missense_variant | |
| 887 | PIK3CA | Q546P GLN546PRO | NC_000003.11:g.178936095A>C,NC_000003.12:g.179218307A>C,NM_006218.4:c.1637A>C,NP_006209.2:p.Gln546Pro | missense_variant |
| 888 | PIK3CA | Q546R | NC_000003.11:g.178936095A>G,NC_000003.12:g.179218307A>G,NP_006209.2:p.Gln546Arg,NM_006218.4:c.1637A>G | missense_variant |
| 929 | PIK3CA | R88Q RS121913287,ARG88GLN | NC_000003.12:g.179199088G>A,NC_000003.11:g.178916876G>A,NM_006218.4:c.263G>A,NP_006209.2:p.Arg88Gln | missense_variant |
| 1178 | PIK3CA | R93W ARG93TRP | ENST00000263967.3:c.277C>T,NC_000003.11:g.178916890C>T,NM_006218.2:c.277C>T,NP_006209.2:p.Arg93Trp | missense_variant |
| 3222 | PIK3CA | Rare Mutation | ||
| 1499 | PIK3CA | S158L SER158LEU | ENST00000263967.3:c.473C>T,NC_000003.11:g.178917598C>T,NM_006218.2:c.473C>T,NP_006209.2:p.Ser158Leu | missense_variant |
| 3668 | PIK3CA | V955G | ||
| 3001 | PIK3CA | V955I VAL955ILE | NC_000003.11:g.178948091G>A,NM_006218.2:c.2863G>A,ENST00000263967.3:c.2863G>A,NP_006209.2:p.Val955Ile | missense_variant |
| 2590 | PIK3CA | Wildtype | wild_type | |
| 633 | PIK3R1 | Mutation | gain_of_function_variant,missense_variant | |
| 3381 | PIK3R2 | G373R | ||
| 1652 | PIK3R2 | N561D ASN561ASP | NM_005027.3:c.1681A>G,NP_005018.1:p.Asn561Asp,NC_000019.9:g.18278061A>G,ENST00000222254.8:c.1681A>G | missense_variant |
| 2363 | PIK3R2 | Overexpression | ||
| 3643 | PIM1 | L2V | ||
| 494 | PIM1 | NUCLEAR EXPRESSION | ||
| 3644 | PIM1 | P81S | ||
| 3645 | PIM1 | S97N | ||
| 2170 | PLCG2 | MUTATION | ||
| 462 | PML | A216V | NC_000015.9:g.74315213C>T | missense_variant |
| 461 | PML | B2 DOMAIN MUTATION | missense_variant | |
| 463 | PML | L218P LEU218PRO | NC_000015.9:g.74315219T>C | missense_variant |
| 108 | PML::RARA | Fusion PML-RARA | transcript_fusion | |
| 508 | PMS2 | K706FS*19 RS587782704,LYS706SERFS | NM_000535.6:c.2117delA,NP_000526.2:p.Lys706Serfs,NC_000007.13:g.6022512del | minus_1_frameshift_variant |
| 768 | PMS2 | R315* ARG315TER,RS200640585,R315X | NM_000535.6:c.943C>T,NP_000526.2:p.Arg315Ter,NC_000007.13:g.6031649G>A | stop_gained |
| 1647 | POLD1 | C284Y CYS284TYR | missense_variant | |
| 1648 | POLD1 | E374K GLU374LYS | ENST00000440232.2:c.1120G>A | missense_variant |
| 797 | POLE | Mutation | gene_variant | |
| 1830 | POLE | P286R PRO286ARG | NM_006231.3:c.857C>G,NP_006222.2:p.Pro286Arg,NC_000012.11:g.133253184G>C,ENST00000320574.5:c.857C>G | missense_variant |
| 1832 | POLE | S459F | ||
| 1831 | POLE | V411L VAL411LEU | missense_variant | |
| 623 | POT1 | MUTATION | protein_altering_variant,loss_of_function_variant | |
| 412 | POU5F1 | EXPRESSION | ||
| 2848 | PPFIBP1::JAK2 | Fusion PPFIBP1-JAK2 | transcript_fusion | |
| 617 | PPFIBP2::BRAF | Fusion PPFIBP2-BRAF | transcript_fusion | |
| 548 | PPP1R15A | RS557806 ARG251PRO,R251P | NM_014330.3:c.752G>C,NP_055145.3:p.Arg251Pro,ENST00000200453.5:c.752G>C,NC_000019.9:g.49377242G>C | missense_variant,polymorphic_sequence_variant |
| 3299 | PPP2R1A | P179R | ||
| 4437 | PPP2R2A | Mutation | ||
| 644 | PRDM1 | MUTATION | loss_of_function_variant,transcript_variant | |
| 2364 | PREX2 | R172I ARG172ILE | missense_variant | |
| 385 | PRKAA2 | T172 PHOSPHORYLATION | ||
| 2468 | PRKCB | D427N |