Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.S183Y

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
1 paper
NM_004960.4
p.S183Y
c.548C>A
Surrounding Variants
1 paper
NM_004960.4
p.S183A
c.547T>G
1 paper
NM_004960.4
p.S183ins1
c.547_548insGTC
1 paper
NM_004960.4
p.M184V
c.550A>G
1 paper
NM_004960.4
p.S182F
c.545C>T
1 paper
NM_004960.4
p.S185delFs
c.553delA
1 paper
NM_004960.4
p.S182A
c.544T>G
1 paper
NM_004960.4
p.S185C
c.553A>T
1 paper
NM_004960.4
p.Q181E
c.541C>G
2 papers
NM_004960.4
p.S185R
c.555T>A
1 paper
NM_004960.4
p.S186N
c.557G>A
1 paper
NM_004960.4
p.D180N
c.538G>A
1 paper
NM_004960.4
p.S186_G187insFs
c.558_559insC
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."