About us Contact Terms of Use Data Sources Publications FAQ

Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
PKHD1L1 ENSG00000205038 ENST00000378402 p.P2055L c.6164C>T Missense_Mutation -
RIMS1 ENSG00000079841 ENST00000521978 p.R217W c.649C>T Missense_Mutation -
RARB ENSG00000077092 ENST00000404969 p.P48P c.144G>A Silent -
PLEKHA2 ENSG00000169499 ENST00000521746 p.E17K c.49G>A Missense_Mutation -
KCNA4 ENSG00000182255 ENST00000328224 NA NA De_novo_Start_OutOfFrame -
TG ENSG00000042832 ENST00000220616 p.K961M c.2882A>T Missense_Mutation -
NEB ENSG00000183091 ENST00000604864 p.Y926* c.2778C>A Nonsense_Mutation -
ZNF208 ENSG00000160321 ENST00000397126 p.E920A c.2759A>C Missense_Mutation -
LRRK2 ENSG00000188906 ENST00000298910 p.G1213S c.3637G>A Missense_Mutation -
TMEM114 ENSG00000232258 ENST00000568335 p.*123* c.369T>G Silent -