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) |
|---|---|---|---|---|
| 3075 | FLT3 | D835I | ||
| 1302 | FLT3 | D835V RS121909646,ASP835VAL | ENST00000241453.7:c.2504A>T,NM_004119.2:c.2504A>T,NP_004110.2:p.Asp835Val,NC_000013.10:g.28592641T>A | missense_variant |
| 3011 | FLT3 | D835Y ASP835TYR,RS121913488 | NC_000013.11:g.28018505C>A,NC_000013.10:g.28592642C>A,ENST00000241453.12:c.2503G>T,NM_004119.3:c.2503G>T,ENSP00000241453.7:p.Asp835Tyr,NP_004110.2:p.Asp835Tyr,LRG_457t1:c.2503G>T,NM_004119.2:c.2503G>T | missense_variant |
| 3071 | FLT3 | F691L | ||
| 3232 | FLT3 | I836 | ||
| 55 | FLT3 | ITD | inframe_insertion | |
| 519 | FLT3 | Mutation | gain_of_function_variant,transcript_variant | |
| 3201 | FLT3 | N841I | ||
| 603 | FLT3 | Overexpression | ||
| 540 | FLT3 | T227M RS1933437,THR227MET | NM_004119.2:c.680C>T,NP_004110.2:p.Thr227Met,ENST00000241453.7:c.680C>T,NC_000013.10:g.28624294G>A | missense_variant,SNP |
| 56 | FLT3 | TKD MUTATION | ||
| 3070 | FLT3 | Y842C | ||
| 4336 | FLT3LG | Expression | ||
| 332 | FNTB | RS11623866 | NC_000014.8:g.65453063G>C | regulatory_region_variant |
| 640 | FOS | Overexpression | ||
| 739 | FOS::v | Fusion FOS Truncating Fusion | transcript_fusion,stop_gained,frameshift_truncation | |
| 198 | FOXL2 | C134W | NC_000003.11:g.138665163G>C | missense_variant |
| 153 | FOXP1 | AMPLIFICATION | transcript_amplification | |
| 2682 | FOXP1::ABL1 | Fusion FOXP1-ABL1 | transcript_fusion | |
| 394 | FOXP3 | EXPRESSION | ||
| 4575 | FOXR2 | Rearrangement | ||
| 4975 | FUS::CREB3L2 | Fusion FUS-CREB3L2 | transcript_fusion | |
| 722 | FUS::DDIT3 | Fusion FUS-DDIT3 | transcript_fusion | |
| 4600 | FUS::ERG | Fusion FUS-ERG | transcript_fusion | |
| 4604 | FUS::NFATC2 | Fusion FUS-NFATC2 | transcript_fusion | |
| 5114 | FUS::TFCP2 | Fusion FUS-TFCP2 | transcript_fusion | |
| 705 | GADD45A | rs681673 1506T>C | coding_transcript_intron_variant | |
| 652 | GAS6 | EXPRESSION | ||
| 57 | GATA2 | EXPRESSION | ||
| 506 | GNA11 | Mutation | ||
| 558 | GNA11 | Q209 | missense_variant | |
| 4413 | GNA11 | Q209L | ||
| 4412 | GNA11 | R183C | ||
| 505 | GNAQ | Mutation | ||
| 507 | GNAQ | Q209 GLN209 | protein_altering_variant | |
| 604 | GNAQ | Q209P GLN209PRO,RS121913492 | NC_000009.11:g.80409488T>G,NM_002072.4:c.626A>C,NP_002063.2:p.Gln209Pro,ENST00000286548.4:c.626A>C | missense_variant |
| 876 | GNAS | R201 | amino_acid_substitution | |
| 826 | GNAS | R201C ARG201CYS,R202C,RS11554273 | NM_000516.5:c.601C>T,NP_000507.1:p.Arg201Cys,NC_000020.10:g.57484420C>T,ENST00000371085.3:c.601C>T | missense_variant |
| 1319 | GNAS | R201H | missense_variant | |
| 877 | GNAS | c.393T>C I131=,RS7121,L131= | NC_000020.11:g.58903752C>T,NC_000020.10:g.57478807C>T,NM_000516.4:c.393C>T,NP_000507.1:p.Ile131= | synonymous_variant |
| 5029 | GOLGA4::RAF1 | Fusion GOLGA4-RAF1 | transcript_fusion | |
| 3214 | GOLGA5::JAK2 | Fusion GOLGA5-JAK2 | transcript_fusion | |
| 2395 | GON4L::NTRK1 | Fusion NTRK1-GON4L | transcript_fusion | |
| 2770 | GOPC::ROS1 | Fusion GOPC-ROS1 | transcript_fusion | |
| 5150 | GOPC::ROS1 | e7::e35 GOPC-ROS1 e7-e35 | transcript_fusion | |
| 250 | GSTP1 | Deletion | transcript_ablation | |
| 259 | GSTP1 | I105V ILE105VAL | NM_000852.3:c.313A>G,NP_000843.1:p.Ile105Val,ENST00000398606.3:c.313A>G,NC_000011.9:g.67352689A>G | missense_variant |
| 3379 | H3-3A | G34R | ||
| 2421 | H3-3A | G34W | ||
| 3939 | H3-3A | K27M |