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Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
AVL9 ENSG00000105778 ENST00000318709 p.Q349Q c.1047G>A Silent -
CAMSAP3 ENSG00000076826 ENST00000160298 p.G1244A c.3731G>C Missense_Mutation -
RBM19 ENSG00000122965 ENST00000545145 p.R42P c.125G>C Missense_Mutation -
UBA5 ENSG00000081307 ENST00000356232 p.K316E c.946A>G Missense_Mutation -
NPIPB3 ENSG00000169246 ENST00000448012 p.A210P c.628G>C Missense_Mutation -
PPFIBP2 ENSG00000166387 ENST00000299492 p.D117H c.349G>C Missense_Mutation -
PGGHG ENSG00000142102 ENST00000409548 p.R117Q c.350G>A Missense_Mutation -
CDKL3 ENSG00000006837 ENST00000265334 p.Y15Y c.45C>T Silent -
SURF4 ENSG00000148248 ENST00000371989 p.F239F c.717C>T Silent -
RIDA ENSG00000132541 ENST00000254878 p.A12A c.36G>A Silent -