Annotation Detail

Information
Associated Genes
FUS
Associated Variants
FUS p.Gly206Ser (p.G206S) ( ENST00000254108.12, ENST00000715542.1, ENST00000568685.1, ENST00000380244.8 )
FUS p.Arg216Cys (p.R216C) ( ENST00000568685.1, ENST00000380244.8, ENST00000254108.12, ENST00000715542.1 )
FUS p.Arg495Ter (p.R495*) ( ENST00000254108.12, ENST00000715542.1, ENST00000568685.1, ENST00000380244.8 )
FUS p.Gly507Asp (p.G507D) ( ENST00000715542.1, ENST00000254108.12, ENST00000380244.8, ENST00000568685.1 )
FUS p.Arg518Lys (p.R518K) ( ENST00000380244.8, ENST00000568685.1, ENST00000715542.1, ENST00000254108.12 )
FUS p.Arg521Gly (p.R521G) ( ENST00000254108.12, ENST00000715542.1, ENST00000380244.8, ENST00000568685.1 )
FUS p.Arg521Cys (p.R521C) ( ENST00000254108.12, ENST00000380244.8, ENST00000568685.1, ENST00000715542.1 )
FUS p.Arg521His (p.R521H) ( ENST00000568685.1, ENST00000380244.8, ENST00000715542.1, ENST00000254108.12 )
FUS p.Arg524Trp (p.R524W) ( ENST00000568685.1, ENST00000380244.8, ENST00000715542.1, ENST00000254108.12 )
FUS p.Gly206Ser (p.G206S) ( ENST00000254108.12, ENST00000380244.8, ENST00000568685.1, ENST00000715542.1 )
FUS p.Arg216Cys (p.R216C) ( ENST00000254108.12, ENST00000380244.8, ENST00000568685.1, ENST00000715542.1 )
FUS p.Arg495Ter (p.R495*) ( ENST00000254108.12, ENST00000380244.8, ENST00000568685.1, ENST00000715542.1 )
FUS p.Gly507Asp (p.G507D) ( ENST00000254108.12, ENST00000380244.8, ENST00000568685.1, ENST00000715542.1 )
FUS p.Arg518Lys (p.R518K) ( ENST00000254108.12, ENST00000380244.8, ENST00000568685.1, ENST00000715542.1 )
FUS p.Arg521Gly (p.R521G) ( ENST00000254108.12, ENST00000380244.8, ENST00000568685.1, ENST00000715542.1 )
FUS p.Arg521Cys (p.R521C) ( ENST00000254108.12, ENST00000380244.8, ENST00000568685.1, ENST00000715542.1 )
FUS p.Arg521His (p.R521H) ( ENST00000254108.12, ENST00000380244.8, ENST00000568685.1, ENST00000715542.1 )
FUS p.Arg524Trp (p.R524W) ( ENST00000254108.12, ENST00000380244.8, ENST00000568685.1, ENST00000715542.1 )
Associated Disease
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
Source Database
DisGeNET
Description
NA
Original source reporting the Gene Disease association
CLINVAR
DisGENET score for the Gene Disease association
0.24
Year of publication
NA
Drugs