Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.R518I

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.R518I
c.1553G>T
Surrounding Variants
64 papers
NM_004960.4
p.R518K
c.1553G>A
23 papers
NM_004960.4
p.R518G
c.1552A>G
97 papers
NM_004960.4
p.H517Q
c.1551C>A
3 papers
NM_004960.4
p.Q519fs
c.1555_1556fs
102 papers
NM_004960.4
p.H517Q
c.1551C>G
14 papers
NM_004960.4
p.Q519E
c.1555C>G
20 papers
NM_004960.4
p.Q519*
c.1555C>T
7 papers
NM_004960.4
p.Q519fs
c.1555_1556fs
2 papers
NM_004960.4
p.R518del1
c.1552_1553delAGA
1 paper
NM_004960.4
p.R518_E523del6
c.1552_1568del18
17 papers
NM_004960.4
p.H517P
c.1550A>C
3 papers
NM_004960.4
p.H517N
c.1549C>A
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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."