G-mel

Other names: GMEL, G-MEL

Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
CXXC1 ENSG00000154832 ENST00000285106 p.R206C c.616C>T Missense_Mutation -
OR4K13 ENSG00000176253 ENST00000315693 p.H105Y c.313C>T Missense_Mutation -
OR4K13 ENSG00000176253 ENST00000315693 p.Q100L c.299A>T Missense_Mutation -
ASCC3 ENSG00000112249 ENST00000369162 p.G1664R c.4990G>A Missense_Mutation -
IDO2 ENSG00000188676 ENST00000389060 p.I211I c.633T>C Silent -
IVNS1ABP ENSG00000116679 ENST00000367498 p.H426Y c.1276C>T Missense_Mutation -
GMEB2 ENSG00000101216 ENST00000266068 p.S437S c.1311C>T Silent -
RIOK3 ENSG00000101782 ENST00000339486 p.R143K c.428G>A Missense_Mutation -
CACNA1G ENSG00000006283 ENST00000359106 p.S991S c.2973C>T Silent -
PDIA3 ENSG00000167004 ENST00000300289 p.A81A c.243A>G Silent -