Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.Y55N

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.Y55N
c.163T>A
Surrounding Variants
1 paper
NM_004960.4
p.Y55S
c.164A>C
28 papers
NM_004960.4
p.S57del1
c.169_170delTCT
1 paper
NM_004960.4
p.S56_S57delFs
c.166_169del4
1 paper
NM_004960.4
p.S54N
c.161G>A
2 papers
NM_004960.4
p.S56delFs
c.167_168delCT
1 paper
NM_004960.4
p.S56_S57delFs
c.167_170del4
2 papers
NM_004960.4
p.S56S
c.168T>G
1 paper
NM_004960.4
p.S57A
c.169T>G
1 paper
NM_004960.4
p.S57F
c.170C>T
1 paper
NM_004960.4
p.S57_Y58delFs
c.171_174del4
1 paper
NM_004960.4
p.Q52Q
c.156G>A
2 papers
NM_004960.4
p.Q52H
c.156G>C
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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."