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) |
|---|---|---|---|---|
| 3138 | NPM1 | MUTATION | ||
| 87 | NPM1 | W288FS NPM1-A,RS587776806,TRP288FS | NM_002520.6:c.860_863dupTCTG,NC_000005.9:g.170837544_170837547dupTCTG,NP_002511.1:p.Trp288Cysfs,ENST00000517671.1:c.860_863dupTCTG | frameshift_elongation |
| 513 | NPM1::ALK | Fusion T(2;5)(P23;Q35),NPM-ALK,NPM1-ALK | transcript_fusion | |
| 5011 | NPM1::MLF1 | Fusion NPM1-MLF1 | transcript_fusion | |
| 401 | NQO1 | EXPRESSION | ||
| 5253 | NQO1 | Overexpression | ||
| 402 | NQO1 | P187S PRO187SER | NM_000903.2:c.559C>T,NP_000894.1:p.Pro187Ser,NC_000016.9:g.69745145G>A | missense_variant |
| 92 | NRAS | G12 | missense_variant | |
| 596 | NRAS | G12/G13 | protein_altering_variant | |
| 897 | NRAS | G12C RS121913250,GLY12CYS | NM_002524.4:c.34G>T,NP_002515.1:p.Gly12Cys,NC_000001.10:g.115258748C>A,ENST00000369535.4:c.34G>T | missense_variant |
| 878 | NRAS | G12D RS121913237,GLY12ASP | NM_002524.4:c.35G>A,NP_002515.1:p.Gly12Asp,NC_000001.10:g.115258747C>T,ENST00000369535.4:c.35G>A | missense_variant |
| 93 | NRAS | G13D GLY13ASP,RS121434596 | NM_002524.4:c.38G>A,NP_002515.1:p.Gly13Asp,NC_000001.10:g.115258744C>T,ENST00000369535.4:c.38G>A | missense_variant |
| 896 | NRAS | G13R RS121434595,GLY13ARG | NM_002524.4:c.37G>C,NP_002515.1:p.Gly13Arg,NC_000001.10:g.115258745C>G,ENST00000369535.4:c.37G>C | missense_variant |
| 208 | NRAS | Mutation | gain_of_function_variant,transcript_variant | |
| 1654 | NRAS | Q179* Q179X,GLN179TER | ENST00000369535.4:c535C>T | stop_gained |
| 94 | NRAS | Q61 GLN61 | missense_variant | |
| 893 | NRAS | Q61H RS121913255,GLN61HIS | NM_002524.4:c.183A>C,NP_002515.1:p.Gln61His,NC_000001.10:g.115256528T>G,ENST00000369535.4:c.183A>C | missense_variant |
| 427 | NRAS | Q61K GLN61LYS,RS121913254 | NM_002524.4:c.181C>A,NP_002515.1:p.Gln61Lys,NC_000001.10:g.115256530G>T,ENST00000369535.4:c.181C>A | missense_variant |
| 95 | NRAS | Q61L GLN61LEU,RS11554290 | NP_002515.1:p.Gln61Leu,NC_000001.10:g.115256529T>A,NM_002524.4:c.182A>T,ENST00000369535.4:c.182A>T | missense_variant |
| 96 | NRAS | Q61R GLN61ARG,RS11554290 | NM_002524.4:c.182A>G,NP_002515.1:p.Gln61Arg,NC_000001.10:g.115256529T>C,ENST00000369535.4:c.182A>G | missense_variant |
| 2883 | NRF1::BRAF | Fusion NRF1-BRAF | transcript_fusion | |
| 314 | NRG1 | Expression | ||
| 240 | NT5C2 | D407A ASP407ALA | NC_000010.10:g.104850745T>G,NM_012229.4:c.1220A>C,NP_036361.1:p.Asp407Ala,ENST00000343289.5:c.1220A>C | missense_variant |
| 239 | NT5C2 | K359Q LYS359GLN | NC_000010.10:g.104852980T>G,NM_012229.4:c.1075A>C,NP_036361.1:p.Lys359Gln,ENST00000343289.5:c.1075A>C | missense_variant |
| 2898 | NT5C2 | Mutation | ||
| 2896 | NT5C2 | R238W | ||
| 238 | NT5C2 | R367Q ARG367GLN | NC_000010.10:g.104852955C>T | missense_variant |
| 2897 | NT5C2 | S445F | gain_of_function_variant,missense_variant | |
| 290 | NT5E | Overexpression | ||
| 1280 | NTRK1 | Amplification | transcript_amplification | |
| 4510 | NTRK1 | F589L | ||
| 2690 | NTRK1 | G595R | ||
| 4511 | NTRK1 | G667C | ||
| 4302 | NTRK1 | G667S | ||
| 860 | NTRK1 | Overexpression | ||
| 5332 | NTRK2 | Amplification | ||
| 1281 | NTRK3 | Amplification | transcript_amplification | |
| 3468 | NTRK3 | F617L | ||
| 2691 | NTRK3 | G623R | missense_variant | |
| 4252 | NTRK3::SCAPER | Fusion NTRK3-SCAPER | transcript_fusion | |
| 3271 | NUP153::ABL1 | Fusion NUP153-ABL1 | transcript_fusion | |
| 2660 | NUP214::ABL1 | Fusion NUP214-ABL1 | transcript_fusion | |
| 2593 | NUP98::NSD1 | Fusion NUP98-NSD1 | transcript_fusion | |
| 5145 | NUP98::v | Fusion NUP98 Fusion | transcript_fusion | |
| 2974 | OFD1::JAK2 | Fusion OFD1-JAK2 | transcript_fusion | |
| 2350 | P2RY8::CRLF2 | Fusion PAR DELETION,P2RY8-CRLF2 | transcript_fusion | |
| 532 | PALB2 | Biallelic Inactivation | loss_of_function_variant | |
| 541 | PALB2 | L531FS*30 LEU531FS*30 | minus_1_frameshift_variant,SNP | |
| 2759 | PALB2 | Mutation | ||
| 286 | PAPSS1::BRAF | Fusion T(4;7)(Q24;Q34),PAPSS1-BRAF | transcript_fusion |