About us Contact Terms of Use Data Sources Publications FAQ

Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
SPACA1 ENSG00000118434 ENST00000237201 p.C230Y c.689G>A Missense_Mutation -
MYLIP ENSG00000007944 ENST00000356840 p.Q232Q c.696G>A Silent -
SLC22A8 ENSG00000149452 ENST00000306494 p.C351R c.1051T>C Missense_Mutation -
CHST2 ENSG00000175040 ENST00000309575 p.G151G c.453C>A Silent -
HIF1A ENSG00000100644 ENST00000337138 p.F167fs c.498_499insT Frame_Shift_Ins -
RTN3 ENSG00000133318 ENST00000377819 p.T551P c.1651A>C Missense_Mutation -
ROBO1 ENSG00000169855 ENST00000464233 p.P484T c.1450C>A Missense_Mutation -
XYLT2 ENSG00000015532 ENST00000017003 p.S87S c.261C>T Silent -
TIMM23B ENSG00000204152 ENST00000451577 p.I97T c.290T>C Missense_Mutation -
THOC3 ENSG00000051596 ENST00000265097 p.S225S c.675C>T Silent -