Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.G253C

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.G253C
c.757G>T
Surrounding Variants
1 paper
NM_004960.4
p.G253S
c.757G>A
31 papers
NM_004960.4
p.M254V
c.760A>G
1 paper
NM_004960.4
p.G252S
c.754G>A
1 paper
NM_004960.4
p.M254K
c.761T>A
1 paper
NM_004960.4
p.M254R
c.761T>G
2 papers
NM_004960.4
p.M254I
c.762G>A
2 papers
NM_004960.4
p.M254I
c.762G>C
2 papers
NM_004960.4
p.M254I
c.762G>T
1 paper
NM_004960.4
p.R251*
c.751A>T
1 paper
NM_004960.4
p.G255R
c.763G>C
1 paper
NM_004960.4
p.G250G
c.750C>A
2 papers
NM_004960.4
p.G255V
c.764G>T
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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."