Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.R518K

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
64 papers
NM_004960.4
p.R518K
c.1553G>A
Surrounding Variants
2 papers
NM_004960.4
p.R518I
c.1553G>T
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."