Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.Y17S

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.Y17S
c.50A>C
Surrounding Variants
1 paper
NM_004960.4
p.Y17H
c.49T>C
4 papers
NM_004960.4
p.P18T
c.52C>A
17 papers
NM_004960.4
p.P18S
c.52C>T
3 papers
NM_004960.4
p.A16V
c.47C>T
1 paper
NM_004960.4
p.P18L
c.53C>T
1 paper
NM_004960.4
p.T19delFs
c.55delA
1 paper
NM_004960.4
p.A16T
c.46G>A
1 paper
NM_004960.4
p.T19A
c.55A>G
1 paper
NM_004960.4
p.G15V
c.44G>T
1 paper
NM_004960.4
p.Q20*
c.58C>T
2 papers
NM_004960.4
p.Y14*
c.42T>A
1 paper
NM_004960.4
p.Y14S
c.41A>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."