Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.R503K

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.R503K
c.1508G>A
Surrounding Variants
11 papers
NM_004960.4
p.R503insFs
c.1509dupA
5 papers
NM_004960.4
p.G504insFs
c.1510dupG
10 papers
NM_004960.4
p.R503fs
c.1507_1508fs
2 papers
NM_004960.4
p.R503_G504insFs
c.1509_1510dupAG
23 papers
NM_004960.4
p.R503delFs
c.1507_1508delAG
5 papers
NM_004960.4
p.G504fs
c.1510_1511fs
23 papers
NM_004960.4
p.G504fs
c.1510_1511fs
1 paper
NM_004960.4
p.D502insFs
c.1505dupA
13 papers
NM_004960.4
p.D502fs
c.1504_1505fs
4 papers
NM_004960.4
p.G505fs
c.1513_1514fs
1 paper
NM_004960.4
p.G501_D502del1
c.1503_1505delGGA
1 paper
NM_004960.4
p.G501fs
c.1501_1502fs
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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."