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) |
|---|---|---|---|---|
| 393 | PROM1 | EXPRESSION | ||
| 2929 | PRPS1 | A190T | ||
| 2939 | PRPS1 | A87T | ||
| 2936 | PRPS1 | C77S | ||
| 2935 | PRPS1 | D139G | ||
| 2920 | PRPS1 | D183E | ||
| 2937 | PRPS1 | I72V | ||
| 2921 | PRPS1 | K176N | ||
| 2919 | PRPS1 | L191F | ||
| 2940 | PRPS1 | M115T | ||
| 2923 | PRPS1 | N144S | ||
| 2916 | PRPS1 | PRPS1 MUTATION | ||
| 2925 | PRPS1 | S103I | ||
| 2926 | PRPS1 | S103N | ||
| 2927 | PRPS1 | S103T | ||
| 2918 | PRPS1 | T303S | ||
| 2938 | PRPS1 | V53A | ||
| 438 | PSMB8 | NUCLEAR EXPRESSION | ||
| 302 | PTCH1 | LOH | loss_of_heterozygosity | |
| 301 | PTCH1 | Mutation | loss_of_function_variant,gene_variant | |
| 3382 | PTEN | C136R | ||
| 213 | PTEN | Deletion | transcript_ablation | |
| 313 | PTEN | Expression | ||
| 214 | PTEN | Loss | loss_of_function_variant | |
| 510 | PTEN | Mutation | protein_altering_variant | |
| 636 | PTEN | R130* R130X,ARG130TER,RS121909224 | NM_000314.6:c.388C>T,NP_000305.3:p.Arg130Ter,ENST00000371953.3:c.388C>T,NC_000010.10:g.89692904C>T | stop_gained |
| 838 | PTEN | R173C ARG173CYS,RS121913293 | NM_000314.6:c.517C>T,NP_000305.3:p.Arg173Cys,ENST00000371953.3:c.517C>T,NC_000010.10:g.89711899C>T | missense_variant |
| 110 | PTEN | R233* R233X,ARG233TER,RS121909219 | NM_000314.6:c.697C>T,NP_000305.3:p.Arg233Ter,ENST00000371953.3:c.697C>T,NC_000010.10:g.89717672C>T | stop_gained,loss_of_function_variant |
| 605 | PTEN | V317FS VAL317FS | ENST00000371953.3:c.950_953delTACT,NC_000010.10:g.89720799_89720802del | frameshift_variant |
| 378 | PTP4A3 | OVEREXPRESSION | ||
| 539 | PTPN11 | Overexpression | ||
| 819 | PTPRB | Loss-of-function | loss_of_function_variant | |
| 327 | PTPRD | Mutation | loss_of_function_variant,transcript_variant | |
| 792 | PTPRD | V253I VAL253ILE | NM_002839.3:c.757G>A,NP_002830.1:p.Val253Ile,NC_000009.11:g.8521481C>T | missense_variant |
| 333 | PTPRT | Promoter Hypermethylation | ||
| 440 | PTTG1 | OVEREXPRESSION | ||
| 4536 | QKI::NTRK2 | Fusion QKI-NTRK2 | transcript_fusion | |
| 4000 | QKI::RAF1 | Fusion QKI-RAF1 | transcript_fusion | |
| 367 | RAC1 | P29S PRO29SER | ENST00000356142.4:c.85C>T,NC_000007.13:g.6426892C>T | missense_variant |
| 625 | RAD23B | EXPRESSION | ||
| 2168 | RAD50 | L1237F | ||
| 4443 | RAD51B | Mutation | ||
| 4445 | RAD51D | Mutation | ||
| 471 | RAD51D | R186* R186X,ARG186TER,RS387906843 | NC_000017.10:g.33433425G>A | stop_gained |
| 4438 | RAD54L | Mutation | ||
| 591 | RAF1 | Amplification | transcript_amplification | |
| 1680 | RAF1 | R391W R176W,R270W,R310W,R411W | ENST00000251849.4:c.1171A>T | missense_variant |
| 4750 | RALGPS2::NTRK3 | e1::e4 RALGPS2-NTRK3 | transcript_fusion | |
| 3268 | RANBP2::ABL1 | Fusion RANBP2-ABL1 | transcript_fusion | |
| 514 | RANBP2::ALK | Fusion RANBP2-ALK | transcript_fusion |