Description
Mutations in the RAS family of proteins have frequently been observed across cancer types. The amino acid positions G12, G13 and Q61 account for the overwhelming majority of these mutations. The isoforms, despite their raw similarity, also behave very differently when expressed in non-native tissue types, likely due to differences in the C-terminal hyper-variable regions. Mis-regulation of isoform expression has been shown to be a driving event in cancer, as well as missense mutations at the three hotspots previously mentioned. While highly recurrent in cancer, targeting these RAS mutants has also been very elusive, and has not yet become common practice in the clinic.
Cyan = gene · Slate = variant · Green = drug · Click variant to filter table
Variants (13)
| CIViC ID | Name | HGVS | Type(s) |
|---|---|---|---|
| 92 | G12 | missense_variant | |
| 596 | G12/G13 | protein_altering_variant | |
| 897 | 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 | 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 | 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 | 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 | Mutation | gain_of_function_variant,transcript_variant | |
| 1654 | Q179* Q179X,GLN179TER | ENST00000369535.4:c535C>T | stop_gained |
| 94 | Q61 GLN61 | missense_variant | |
| 893 | 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 | 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 | 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 | 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 |