Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.Y526fs

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.Y526fs
c.1576_1577fs
Surrounding Variants
20 papers
NM_004960.4
p.Y526C
c.1577A>G
NM_001170634.1
p.Y525C
c.1574A>G
9 papers
NM_004960.4
p.Y526F
c.1577A>T
1 paper
NM_004960.4
p.P525P
c.1575G>A
6 papers
NM_004960.4
p.P525_Y526ins1
c.1575_1576insTAT
2 papers
NM_004960.4
p.P525P
c.1575G>T
1 paper
NM_004960.4
p.P525_Y526insFs
c.1575_1576dupGT
20 papers
NM_004960.4
p.P525R
c.1574C>G
556 papers
NM_004960.4
p.P525L
c.1574C>T
2 papers
NM_004960.4
p.P525T
c.1573C>A
1 paper
NM_004960.4
p.P525A
c.1573C>G
5 papers
NM_004960.4
p.P525S
c.1573C>T
5 papers
NM_004960.4
p.*527delFs
c.1581delA
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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."