Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.R244H

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.R244H
c.731G>A
Surrounding Variants
1 paper
NM_004960.4
p.R244S
c.730C>A
44 papers
NM_004960.4
p.R244C
c.730C>T
1 paper
NM_004960.4
p.G243A
c.728G>C
8 papers
NM_004960.4
p.G245V
c.734G>T
1 paper
NM_004960.4
p.G246S
c.736G>A
1 paper
NM_004960.4
p.G247_G250ins1
c.739_750dup12
1 paper
NM_004960.4
p.G247S
c.739G>A
1 paper
NM_004960.4
p.E240K
c.718G>A
1 paper
NM_004960.4
p.G249R
c.745G>A
1 paper
NM_004960.4
p.G249R
c.745G>C
1 paper
NM_004960.4
p.Y239S
c.716A>C
1 paper
NM_004960.4
p.Y239C
c.716A>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."