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Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
EMCN ENSG00000164035 ENST00000296420 p.P144R c.431C>G Missense_Mutation -
PPARGC1A ENSG00000109819 ENST00000264867 p.L88V c.262T>G Missense_Mutation -
FNDC3B ENSG00000075420 ENST00000336824 p.P384P c.1152C>T Silent -
ZBTB1 ENSG00000126804 ENST00000554015 p.V142I c.424G>A Missense_Mutation -
MDK ENSG00000110492 ENST00000405308 p.G55S c.163G>A Missense_Mutation -
MED12L ENSG00000144893 ENST00000474524 p.E554A c.1661A>C Missense_Mutation -
COG2 ENSG00000135775 ENST00000366669 p.F17L c.49T>C Missense_Mutation -
CDK8 ENSG00000132964 ENST00000381527 p.E12K c.34G>A Missense_Mutation -
VWA7 ENSG00000204396 ENST00000375688 p.S431F c.1292C>T Missense_Mutation -
TG ENSG00000042832 ENST00000220616 p.V2101M c.6301G>A Missense_Mutation -