Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.Q43R

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.Q43R
c.128A>G
Surrounding Variants
1 paper
NM_004960.4
p.Q43H
c.129G>C
2 papers
NM_004960.4
p.S44A
c.130T>G
1 paper
NM_004960.4
p.S42N
c.125G>A
4 papers
NM_004960.4
p.S44S
c.132C>A
2 papers
NM_004960.4
p.S44S
c.132C>T
2 papers
NM_004960.4
p.Y41S
c.122A>C
1 paper
NM_004960.4
p.D46N
c.136G>A
1 paper
NM_004960.4
p.D46_S48delFs
c.137_143del7
2 papers
NM_004960.4
p.G40A
c.119G>C
1 paper
NM_004960.4
p.S39N
c.116G>A
1 paper
NM_004960.4
p.S48P
c.142T>C
3 papers
NM_004960.4
p.S48A
c.142T>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."