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) |
|---|---|---|---|---|
| 4941 | BCR::NTRK2 | Fusion BCR-NTRK2 | transcript_fusion | |
| 2971 | BCR::PDGFRA | Fusion BCR-PDGFRA | transcript_fusion | |
| 590 | BIRC3 | TRUNCATING MUTATION | frameshift_variant | |
| 368 | BIRC5 | NUCLEAR EXPRESSION | ||
| 578 | BIRC5 | Overexpression | ||
| 251 | BIRC7 | Amplification | transcript_amplification | |
| 2826 | BRAF | A598V ALA598VAL | missense_variant | |
| 1198 | BRAF | A728V A336V | missense_variant | |
| 1269 | BRAF | Amplification | transcript_amplification | |
| 579 | BRAF | D594A ASP594ALA,RS121913338 | ENST00000288602.6:c.1781A>C,NC_000007.13:g.140453154T>G,NM_004333.4:c.1781A>C,NP_004324.2:p.Asp594Ala | missense_variant |
| 611 | BRAF | D594G ASP594GLY,RS121913338 | NM_004333.4:c.1781A>G,NP_004324.2:p.Asp594Gly,NC_000007.13:g.140453154T>C,ENST00000288602.6:c.1781A>G | missense_variant |
| 2398 | BRAF | D594K | ||
| 580 | BRAF | D594V ASP594VAL,RS121913338 | NM_004333.4:c.1781A>T,NP_004324.2:p.Asp594Val,NC_000007.13:g.140453154T>A,ENST00000288602.6:c.1781A>T | missense_variant |
| 2650 | BRAF | Exon 15 Mutation | ||
| 3432 | BRAF | G463E | ||
| 1106 | BRAF | G464V RS121913348,GLY464VAL | NM_004333.4:c.1391G>T,NP_004324.2:p.Gly464Val,NC_000007.13:g.140481417C>A,ENST00000288602.6:c.1391G>T | missense_variant |
| 2222 | BRAF | G466V GLY466VAL,RS121913351 | NC_000007.13:g.140481411C>A,NM_004333.4:c.1397G>T,NP_004324.2:p.Gly466Val,ENST00000288602.6:c.1397G>T | missense_variant |
| 2822 | BRAF | G469 | ||
| 992 | BRAF | G469A RS121913355,GLY469ALA | NM_004333.4:c.1406G>C,NP_004324.2:p.Gly469Ala,NC_000007.13:g.140481402C>G,ENST00000288602.6:c.1406G>C | missense_variant |
| 993 | BRAF | G469E RS121913355 | missense_variant | |
| 2221 | BRAF | G496A | ||
| 694 | BRAF | G596C GLY596CYS,RS121913361 | NM_004333.4:c.1786G>T,NP_004324.2:p.Gly596Cys,NC_000007.13:g.140453149C>A,ENST00000288602.6:c.1786G>T | missense_variant |
| 1627 | BRAF | G596R RS121913361,G204R,G24R,GLY596ARG | NM_004333.4:c.1786G>C,NP_004324.2:p.Gly596Arg,NC_000007.13:g.140453149C>G,ENST00000288602.6:c.1786G>C | missense_variant |
| 2223 | BRAF | G606E GLY606GLU | missense_variant | |
| 581 | BRAF | K483M LYS483MET | NC_000007.13:g.140477859_140477860delinsCA,ENST00000288602.6:c.1448_1449delinsTG | missense_variant,loss_of_function_variant |
| 584 | BRAF | K601E LYS601GLU,RS121913364 | NM_004333.4:c.1801A>G,NP_004324.2:p.Lys601Glu,NC_000007.13:g.140453134T>C,ENST00000288602.6:c.1801A>G | missense_variant |
| 522 | BRAF | L485_P490del DEL 485-490,LEU485_PRO490DEL | ENST00000288602.6:c.1453_1470del,NC_000007.13:g.140477838_140477855del,NM_004333.4:c.1453_1470del,NP_004324.2:p.Leu485_Pro490del | inframe_deletion |
| 658 | BRAF | L505H LEU505HIS | ENST00000288602.6:c.1514T>A,NC_000007.13:g.140477794A>T,NM_004333.4:c.1514T>A,NP_004324.2:p.Leu505His | missense_variant |
| 2793 | BRAF | L525R | ||
| 583 | BRAF | L597Q LEU597GLN,RS121913366 | NM_004333.4:c.1790T>A,NP_004324.2:p.Leu597Gln,NC_000007.13:g.140453145A>T,ENST00000288602.6:c.1790T>A | missense_variant |
| 288 | BRAF | L597R LEU597ARG,RS121913366 | NC_000007.13:g.140453145A>C,NM_004333.4:c.1790T>G,NP_004324.2:p.Leu597Arg,ENST00000288602.6:c.1790T>G | missense_variant |
| 582 | BRAF | L597S LEU597SER | NC_000007.13:g.140453145_140453146delinsGA,NM_004333.4:c.1789_1790delCTinsTC,NP_004324.2:p.Leu597Ser,ENST00000288602.6:c.1789_1790delCTinsTC | missense_variant |
| 585 | BRAF | L597V LEU597VAL,RS121913369 | NM_004333.4:c.1789C>G,NP_004324.2:p.Leu597Val,NC_000007.13:g.140453146G>C,ENST00000288602.6:c.1789C>G | missense_variant |
| 399 | BRAF | Mutation | gene_variant,gain_of_function_variant | |
| 2794 | BRAF | N486_P490del | ||
| 1186 | BRAF | N581S N189S,N9S,RS121913370 | missense_variant | |
| 2408 | BRAF | Non-V600 | protein_altering_variant | |
| 2224 | BRAF | P731T PRO731THR | ENST00000288602.6:c.2193G>T | missense_variant |
| 1298 | BRAF | T599dup THR599DUP | ||
| 17 | BRAF | V600 VAL600 | protein_altering_variant | |
| 11 | BRAF | V600D RS121913377,VAL600ASP | NM_004333.4:c.1799_1800delTGinsAT,NP_004324.2:p.Val600Asp,ENST00000288602.6:c.1799_1800delTGinsAT,NC_000007.13:g.140453135_140453136delinsAT | missense_variant |
| 12 | BRAF | V600E RS113488022,VAL600GLU,V640E,VAL640GLU | NM_004333.4:c.1799T>A,NP_004324.2:p.Val600Glu,NC_000007.13:g.140453136A>T,ENST00000288602.6:c.1799T>A | missense_variant |
| 563 | BRAF | V600K VAL600LYS,RS121913227 | ENST00000288602.6:c.1798_1799delinsAA,NC_000007.13:g.140453136_140453137delinsTT,NM_004333.4:c.1798_1799delGTinsAA,NP_004324.2:p.Val600Lys | missense_variant |
| 1405 | BRAF | V600M RS121913378 | missense_variant | |
| 2820 | BRAF | V600_K601>E | ||
| 426 | BRAF | Wildtype | wild_type | |
| 2226 | BRAF | intron 10 rearrangement | ||
| 2225 | BRAF | intron 9 rearrangement | ||
| 656 | BRAF::CUL1 | Fusion BRAF-CUL1 | transcript_fusion | |
| 709 | BRCA1 | Alu insertion |