About us Contact Terms of Use Data Sources Publications FAQ

Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
GAK ENSG00000178950 ENST00000314167 NA NA Splice_Site -
METTL25 ENSG00000127720 ENST00000248306 p.R290K c.869G>A Missense_Mutation -
PPP2R1A ENSG00000105568 ENST00000322088 p.P92L c.275C>T Missense_Mutation -
EXO1 ENSG00000174371 ENST00000366548 p.S517* c.1550C>G Nonsense_Mutation -
MAPKAPK2 ENSG00000162889 ENST00000367103 p.L203L c.609G>A Silent -
YY1AP1 ENSG00000163374 ENST00000295566 p.L438L c.1314G>A Silent -
ABI2 ENSG00000138443 ENST00000422511 p.Q179E c.535C>G Missense_Mutation -
TG ENSG00000042832 ENST00000220616 p.S430C c.1288A>T Missense_Mutation -
FAM72D ENSG00000215784 ENST00000400889 p.E39K c.115G>A Missense_Mutation -
CHD1L ENSG00000131778 ENST00000369258 NA NA Splice_Site -