Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.G230insFs

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.G230insFs
c.689_690insT
Surrounding Variants
1 paper
NM_004960.4
p.G230R
c.688G>C
25 papers
NM_004960.4
p.G230C
c.688G>T
1 paper
NM_004960.4
p.G229A
c.686G>C
2 papers
NM_004960.4
p.G229S
c.685G>A
1 paper
NM_004960.4
p.G231ins0
c.691_693dupGGT
3 papers
NM_004960.4
p.G229_G231ins1
c.685_693dup9
6 papers
NM_004960.4
p.G228G
c.684C>T
7 papers
NM_004960.4
p.G231del1
c.691_692delGGT
3 papers
NM_004960.4
p.G229_G230del2
c.685_689del6
1 paper
NM_004960.4
p.Y232D
c.694T>G
1 paper
NM_004960.4
p.Y232S
c.695A>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."