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) |
|---|---|---|---|---|
| 396 | JAK1 | OVEREXPRESSION | ||
| 614 | JAK1 | Q503* Q503X,GLN503TER | NC_000001.10:g.65321333G>A,ENST00000342505.4:c.1507C>T | stop_gained |
| 822 | JAK1 | S703I SER703ILE | ENST00000342505.4:c.2108G>T,NC_000001.10:g.65311203C>A | missense_variant |
| 2587 | JAK2 | F694L | ||
| 1681 | JAK2 | Splice Site (c.1641+2T>G) F547 SPLICE SITE MUTATION,(C.1641+2T>G) F547 SPLICE SITE | NC_000009.11:g.5070054T>G,NM_004972.3:c.1641+2T>G,NP_004963.1:p.= | splice_donor_variant |
| 64 | JAK2 | V617F VAL617PHE,RS77375493 | NC_000009.11:g.5073770G>T,NM_004972.3:c.1849G>T,NP_004963.1:p.Val617Phe,ENST00000381652.3:c.1849G>T | missense_variant,gain_of_function_variant |
| 615 | JAK2 | c.1641+1dup | NC_000009.11:g.5070053_5070054insG | |
| 639 | JUN | Overexpression | ||
| 3158 | KANK1::NTRK2 | Fusion KANK1-NTRK2 | transcript_fusion | |
| 4001 | KANK4::ALK | Fusion KANK4-ALK | transcript_fusion | |
| 5042 | KAT6A::CREBBP | Fusion KAT6A-CREBBP | transcript_fusion | |
| 467 | KDR | A1065T ALA1065THR,RS56302315 | NC_000004.11:g.55955969C>T,NM_002253.2:c.3193G>A,NP_002244.1:p.Ala1065Thr,ENST00000263923.4:c.3193G>A | missense_variant |
| 468 | KDR | D717V ASP717VAL | NC_000004.11:g.55968180T>A,ENST00000263923.4:c.2150A>T | missense_variant |
| 3350 | KDR | R1032Q | ||
| 502 | KDR | R961W ARG961TRP,RS530419081 | NC_000004.11:g.55961059G>A,NM_002253.2:c.2881C>T,NP_002244.1:p.Arg961Trp,ENST00000263923.4:c.2881C>T | missense_variant |
| 5116 | KEAP1 | Mutation | ||
| 618 | KIAA1549::BRAF | Fusion KIAA1549-BRAF | transcript_fusion | |
| 700 | KIF23 | EXPRESSION | ||
| 4300 | KIF5B::EGFR | Fusion KIF5B-EGFR | transcript_fusion | |
| 273 | KIF5B::RET | Fusion KIF5B-RET | transcript_fusion | |
| 5366 | KIT | A502_Y503dup | ||
| 1558 | KIT | A502_Y503insAY Ala502_Tyr503insAlaTyr | NC_000004.12:g.54726016_54726017insGCCTAT,NC_000004.11:g.55592182_55592183insGCCTAT,NM_000222.3:c.1506_1507insGCCTAT,ENST00000288135.6:c.1506_1507insGCCTAT,NP_000213.1:p.Ala502_Tyr503insAlaTyr,ENSP00000288135.6:p.Ala502_Tyr503insAlaTyr | inframe_insertion |
| 990 | KIT | A829P RS1057519713,ALA829PRO | NC_000004.11:g.55602664G>C,NM_000222.2:c.2485G>C,NP_000213.1:p.Ala829Pro | missense_variant |
| 586 | KIT | Amplification | transcript_amplification | |
| 1264 | KIT | C809G CYS809GLY | ENST00000288135.5:c.2425T>G,NC_000004.11:g.55599299T>G,NM_000222.2:c.2425T>G,NP_000213.1:p.Cys809Gly | missense_variant |
| 977 | KIT | D579del ASP579DEL,RS1060502543 | ENST00000288135.5:c.1735_1737delGAT,NM_000222.2:c.1735_1737delGAT,NP_000213.1:p.Asp579del,NC_000004.11:g.55593669_55593671delGAT | conservative_inframe_deletion |
| 1559 | KIT | D816E D812E,ASP816GLU | ENST00000288135.5:c.2448C>G,NC_000004.11:g.55599322C>G,NM_000222.2:c.2448C>G,NP_000213.1:p.Asp816Glu | missense_variant |
| 983 | KIT | D816H ASP816HIS,RS121913506 | NM_000222.2:c.2446G>C,NP_000213.1:p.Asp816His,NC_000004.11:g.55599320G>C,ENST00000288135.5:c.2446G>C | missense_variant |
| 65 | KIT | D816V ASP816VAL,RS121913507 | NM_000222.2:c.2447A>T,NP_000213.1:p.Asp816Val,ENST00000288135.5:c.2447A>T,NC_000004.11:g.55599321A>T | missense_variant |
| 1265 | KIT | D820A ASP820ALA | ENST00000288135.5:c.2459A>C,NC_000004.11:g.55599333A>C,NM_000222.2:c.2459A>C,NP_000213.1:p.Asp820Ala | missense_variant |
| 1266 | KIT | D820G ASP820GLY,RS121913682 | NM_000222.2:c.2459A>G,NP_000213.1:p.Asp820Gly,NC_000004.11:g.55599333A>G,ENST00000288135.5:c.2459A>G | missense_variant |
| 986 | KIT | D820Y ASP820TYR,RS1057519710 | NM_000222.2:c.2458G>T,NP_000213.1:p.Asp820Tyr,NC_000004.11:g.55599332G>T,ENST00000288135.5:c.2458G>T | missense_variant |
| 429 | KIT | EXPRESSION | ||
| 66 | KIT | Exon 11 Mutation | coding_sequence_variant | |
| 2643 | KIT | Exon 13 Mutation | ||
| 69 | KIT | Exon 14 Mutation | exon_variant | |
| 509 | KIT | Exon 9 Mutation | exon_variant | |
| 2621 | KIT | F506_F508DUP | p.Phe506_Phe508dup,c.55592192_55592200dup | |
| 67 | KIT | Internal Duplication | inframe_insertion | |
| 2622 | KIT | K484_G487DEL | ||
| 949 | KIT | K550_K558del RS121913234,KPMYEVQWK550-558DEL | NM_000222.2:c.1648_1674del27,NP_000213.1:p.Lys550_Lys558del,NC_000004.11:g.55593582_55593608del27,ENST00000288135.5:c.1648_1674del27 | inframe_deletion |
| 2696 | KIT | K550_K559DEL | ||
| 948 | KIT | K550_W557del | ENST00000288135.5:c.1648_1671del AAACCCATGTATGAAGTACAGTGG | inframe_deletion |
| 964 | KIT | K558_V559del | ENST00000288135.5:c.1672_1677delAAGGTT | |
| 1549 | KIT | K558delinsNP | delins | |
| 978 | KIT | K642E RS121913512,LYS642GLU | NM_000222.2:c.1924A>G,NP_000213.1:p.Lys642Glu,NC_000004.11:g.55594221A>G,ENST00000288135.5:c.1924A>G | missense_variant |
| 72 | KIT | L576P RS121913513,LEU576PRO | NM_000222.2:c.1727T>C,NP_000213.1:p.Leu576Pro,ENST00000288135.5:c.1727T>C,NC_000004.11:g.55593661T>C | missense_variant |
| 201 | KIT | M541L MET541LEU,RS3822214 | NM_000222.2:c.1621A>C,NP_000213.1:p.Met541Leu,ENST00000288135.5:c.1621A>C,NC_000004.11:g.55593464A>C | missense_variant |
| 388 | KIT | Mutation | transcript_variant | |
| 987 | KIT | N822H | missense_variant |