Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.E278Splc

FUS

2,108 papers

RefSeq Summary

This gene encodes a multifunctional protein component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complex. The hnRNP complex is involved in pre-mRNA splicing and the export of fully process...

Pfam Domains

RRM_1aa 287–365UCSCRNA recognition motif
Zn_ribbon_RanBPaa 422–453UCSCZn-finger in Ran binding protein and others

Gene Aliases

HGNC Name

FUS RNA binding protein

HGNC Previous Symbol

ALS6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_004960.4
p.E278Splc
c.833-29C>T
Surrounding Variants
1 paper
NM_004960.4
p.E278Splc
c.833-6A>G
1 paper
NM_004960.4
p.E278V
c.833A>T
1 paper
NM_004960.4
p.D280N
c.838G>A
1 paper
NM_004960.4
p.D280delFs
c.840delT
1 paper
NM_004960.4
p.S282A
c.844T>G
1 paper
NM_004960.4
p.D283N
c.847G>A
1 paper
NM_004960.4
p.F288L
c.864T>A
39 papers
NM_004960.4
p.Q290*
c.868C>T
1 paper
NM_004960.4
p.G291S
c.871G>A
1 paper
NM_004960.4
p.G291fs
c.871_872fs
1 paper
NM_004960.4
p.G293del1
c.877_879delGGT
1 paper
NM_004960.4
p.G293G
c.879T>A
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