Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.Q141H

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.Q141H
c.423A>T
Surrounding Variants
1 paper
NM_004960.4
p.Q141H
c.423A>C
1 paper
NM_004960.4
p.Q141P
c.422A>C
1 paper
NM_004960.4
p.Q141R
c.422A>G
2 papers
NM_004960.4
p.S142C
c.424A>T
1 paper
NM_004960.4
p.S142N
c.425G>A
1 paper
NM_004960.4
p.S142T
c.425G>C
10 papers
NM_004960.4
p.Q140H
c.420G>C
10 papers
NM_004960.4
p.Q140H
c.420G>T
1 paper
NM_004960.4
p.Q140P
c.419A>C
6 papers
NM_004960.4
p.Q140R
c.419A>G
2 papers
NM_004960.4
p.Y143S
c.428A>C
1 paper
NM_004960.4
p.Y143C
c.428A>G
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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."