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) |
|---|---|---|---|---|
| 364 | ERBB4 | NUCLEAR TRANSLOCATION | ||
| 329 | ERCC1 | Expression | ||
| 2409 | ERCC1 | Underexpression | ||
| 264 | ERCC2 | K751Q LYS751GLN | NC_000019.9:g.45854919T>G | missense_variant |
| 255 | ERCC5 | RS751402 | NC_000013.10:g.103498198A>G | 5_prime_UTR_variant,SNP |
| 318 | EREG | EXPRESSION | ||
| 691 | ERRFI1 | E384* E384X,GLU384TER | NC_000001.10:g.8073509C>A | stop_gained,loss_of_function_variant |
| 47 | ESR1 | D538G ASP538GLY | NC_000006.11:g.152419926A>G,ENST00000206249.3:c.1613A>G,NM_000125.3:c.1613A>G,NP_000116.2:p.Asp538Gly | missense_variant |
| 46 | ESR1 | L536Q LEU536GLN | NC_000006.11:g.152419920_152419921delinsAG,ENST00000440973.1:c.1607_1608delinsAG | missense_variant |
| 3910 | ESR1 | Mutation | ||
| 607 | ESR1 | Overexpression | ||
| 692 | ESR1 | S463P SER463PRO,RS1057519714 | NC_000006.11:g.152415537T>C,ENST00000440973.1:c.1387T>C,NM_000125.3:c.1387T>C,NP_000116.2:p.Ser463Pro | missense_variant |
| 48 | ESR1 | Y537C GLY537CYS | ENST00000206249.3:c.1610A>G,NC_000006.11:g.152419923A>G,NM_000125.3:c.1610A>G,NP_000116.2:p.Tyr537Cys | missense_variant |
| 49 | ESR1 | Y537N GLY537ASN | NC_000006.11:g.152419922T>A,ENST00000206249.3:c.1609T>A,NM_000125.3:c.1609T>A,NP_000116.2:p.Tyr537Asn | missense_variant |
| 50 | ESR1 | Y537S GLY537SER | NC_000006.11:g.152419923A>C,ENST00000206249.3:c.1610A>C,NM_000125.3:c.1610A>C,NP_000116.2:p.Tyr537Ser | missense_variant |
| 445 | ETS2 | RS461155 P341P,P481P,PRO341= | NC_000021.8:g.40191638A>G,NM_005239.5:c.1023A>G,ENST00000360214.3:c.1023A>G,NP_005230.1:p.Pro341= | synonymous_variant |
| 653 | ETV4 | Overexpression | ||
| 2575 | ETV6::ABL1 | Fusion ETV6-ABL1 | transcript_fusion | |
| 2859 | ETV6::JAK2 | Fusion ETV6-JAK2 | transcript_fusion | |
| 3700 | ETV6::NTRK1 | Fusion ETV6-NTRK1 | transcript_fusion | |
| 2396 | ETV6::NTRK2 | Fusion ETV6-NTRK2 | transcript_fusion | |
| 801 | ETV6::NTRK3 | Fusion ETV6-NTRK3 | transcript_fusion | |
| 3140 | ETV6::RUNX1 | Fusion ETV6-RUNX1 | transcript_fusion | |
| 4974 | EWSR1::CREB3L1 | Fusion EWSR1-CREB3L1 | transcript_fusion | |
| 717 | EWSR1::DDIT3 | Fusion T(12;22)(Q13;Q12),EWS-CHOP,EWSR1-DDIT3 | transcript_fusion | |
| 4602 | EWSR1::ERG | Fusion EWSR1-ERG | transcript_fusion | |
| 706 | EWSR1::FLI1 | Fusion EWS-FLI,T(11;22)(Q24;Q12),EWSR1-FLI1 | transcript_fusion | |
| 164 | EWSR1::FLI1 | e7::e6 EWSR1-FLI1 TYPE 1,EWSR1-FLI1 E7-E6 | transcript_fusion | |
| 4603 | EWSR1::NFATC2 | Fusion EWSR1-NFATC2 | transcript_fusion | |
| 2385 | EWSR1::NR4A3 | Fusion EWSR1-NR4A3 | transcript_fusion | |
| 5373 | EWSR1::PATZ1 | Fusion EWSR1-PATZ1 | transcript_fusion | |
| 2941 | EWSR1::WT1 | Fusion EWSR1-WT1 | transcript_fusion | |
| 4415 | EZH2 | A682G ALA682GLY,A677G,ALA677GLY | NC_000007.14:g.148809375G>C,NC_000007.13:g.148506467G>C,ENST00000320356.7:c.2045C>G,NM_004456.5:c.2045C>G,NP_004447.2:p.Ala682Gly,ENSP00000320147.2:p.Ala682Gly | missense_variant |
| 4414 | EZH2 | A692V A687V,ALA692VAL,ALA687VAL | NC_000007.14:g.148809345G>A,NC_000007.13:g.148506437G>A,ENST00000320356.7:c.2075C>T,NM_004456.5:c.2075C>T,ENSP00000320147.2:p.Ala692Val,NP_004447.2:p.Ala692Val | missense_variant |
| 3737 | EZH2 | Activating Mutation | ||
| 257 | EZH2 | Intron 6 Mutation RS3757441 | NC_000007.14:g.148827660C=,NC_000007.13:g.148524752C=,ENST00000320356.7:c.626-394G=,ENSP00000320147.2:n.626-394G=,NM_004456.5:c.626-394G=,NP_004447.2:n.626-394G= | intron_variant |
| 163 | EZH2 | Mutation | protein_altering_variant | |
| 291 | EZH2 | Overexpression | ||
| 165 | EZH2 | Y646 Y641,TYR646 | protein_altering_variant | |
| 3607 | EZH2 | Y646C TYR646CYS,Y641C,TYR641CYS | NC_000007.14:g.148811635T>C,NC_000007.13:g.148508727T>C,ENST00000320356.7:c.1937A>G,ENSP00000320147.2:p.Tyr646Cys,NM_004456.5:c.1937A>G,NP_004447.2:p.Tyr646Cys | missense_variant |
| 2989 | EZH2 | Y646F Y641F,TYR641PHE,TYR646PHE | ENST00000320356.7:c.1937A>T,NC_000007.14:g.148811635T>A,NC_000007.13:g.148508727T>A,ENSP00000320147.2:p.Tyr646Phe,ENST00000460911.5:c.1922A>T,ENSP00000419711.1:p.Tyr641Phe,NM_004456.5:c.1937A>T,NP_004447.2:p.Tyr646Phe,NM_001203247.2:c.1922A>T,NP_001190176.1:p.Tyr641Phe | missense_variant |
| 3364 | EZH2 | Y646H Y641H,TYR641HIS,TYR646HIS | NC_000007.14:g.148811636A>G,NC_000007.13:g.148508728A>G,ENSP00000320147.2:p.Tyr646His,ENST00000460911.5:c.1921T>C,ENSP00000419711.1:p.Tyr641His,NM_004456.5:c.1936T>C,NP_004447.2:p.Tyr646His,NM_001203247.2:c.1921T>C,NP_001190176.1:p.Tyr641His,ENST00000320356.7:c.1936T>C | missense_variant |
| 4090 | EZH2 | Y646N Y641N,TYR646ASN,TYR641ASN | NC_000007.14:g.148811636A>T,NC_000007.13:g.148508728A>T,ENST00000320356.7:c.1936T>A,ENSP00000320147.2:p.Tyr646Asn,NM_004456.5:c.1936T>A,NP_004447.2:p.Tyr646Asn,NM_001203247.2:c.1921T>A,NP_001190176.1:p.Tyr641Asn,ENST00000460911.5:c.1921T>A,ENSP00000419711.1:p.Tyr641Asn | missense_variant |
| 2666 | EZH2 | Y646S Y641S,TYR641SER,TYR646SER | NC_000007.14:g.148811635,NC_000007.13:g.148508727,ENST00000320356.7:c.1937A>C,ENSP00000320147.2:p.Tyr646Ser,NM_004456.5:c.1937A>C,NP_004447.2:p.Tyr646Ser | missense_variant |
| 4416 | EZH2 | expression | ||
| 534 | FANCC | Loss-of-function | loss_of_function_variant | |
| 637 | FBXW7 | Loss-of-function | loss_of_function_variant | |
| 281 | FBXW7 | Mutation | loss_of_function_variant,protein_altering_variant | |
| 456 | FCGR2A | H167R RS1801274,H131R,H166R,HIS167ARG | NM_001136219.1:c.500A>G,NP_001129691.1:p.His167Arg,ENST00000271450.6:c.500A>G,NC_000001.10:g.161479745A>G | missense_variant |
| 458 | FCGR2B | I232T RS1050501,ILE232THR | NM_004001.4:c.695T>C,NP_003992.3:p.Ile232Thr,ENST00000358671.5:c.695T>C,NC_000001.10:g.161643798T>C | missense_variant |