Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.R522S

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
2 papers
NM_004960.4
p.R522S
c.1566G>T
Surrounding Variants
19 papers
NM_004960.4
p.R522R
c.1566G>A
2 papers
NM_004960.4
p.R522S
c.1566G>C
1 paper
NM_004960.4
p.E523A
c.1568A>C
97 papers
NM_004960.4
p.R522G
c.1564A>G
1 paper
NM_004960.4
p.E523D
c.1569G>T
9 papers
NM_004960.4
p.R524G
c.1570A>G
20 papers
NM_004960.4
p.R524W
c.1570A>T
245 papers
NM_004960.4
p.R521H
c.1562G>A
1 paper
NM_004960.4
p.R521P
c.1562G>C
56 papers
NM_004960.4
p.R521L
c.1562G>T
14 papers
NM_004960.4
p.R521S
c.1561C>A
220 papers
NM_004960.4
p.R521G
c.1561C>G
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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."