Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.G227D

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.G227D
c.680G>A
Surrounding Variants
1 paper
NM_004960.4
p.G227V
c.680G>T
1 paper
NM_004960.4
p.G227G
c.681C>A
1 paper
NM_004960.4
p.G228_G229del0
c.682_687del6
3 papers
NM_004960.4
p.G228_G230del3
c.682_689del9
1 paper
NM_004960.4
p.G226G
c.678C>A
5 papers
NM_004960.4
p.G227_G229del0
c.679_687del9
2 papers
NM_004960.4
p.G227_G231del0
c.681_692del12
2 papers
NM_004960.4
p.G228R
c.682G>C
1 paper
NM_004960.4
p.G228C
c.682G>T
1 paper
NM_004960.4
p.G228fs
c.682_683fs
1 paper
NM_004960.4
p.G226A
c.677G>C
1 paper
NM_004960.4
p.G228A
c.683G>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."