Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.Y232S

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.Y232S
c.695A>C
Surrounding Variants
1 paper
NM_004960.4
p.Y232Y
c.696C>T
1 paper
NM_004960.4
p.Y232D
c.694T>G
1 paper
NM_004960.4
p.N233D
c.697A>G
1 paper
NM_004960.4
p.R234S
c.700C>A
19 papers
NM_004960.4
p.R234C
c.700C>T
1 paper
NM_004960.4
p.G230insFs
c.689_690insT
17 papers
NM_004960.4
p.R234L
c.701G>T
1 paper
NM_004960.4
p.R234R
c.702C>T
1 paper
NM_004960.4
p.G230R
c.688G>C
25 papers
NM_004960.4
p.G230C
c.688G>T
2 papers
NM_004960.4
p.S235G
c.703A>G
1 paper
NM_004960.4
p.G229A
c.686G>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."