Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.H517Y

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
4 papers
NM_004960.4
p.H517Y
c.1549C>T
Surrounding Variants
3 papers
NM_004960.4
p.H517N
c.1549C>A
39 papers
NM_004960.4
p.H517D
c.1549C>G
18 papers
NM_004960.4
p.R518_Q519delFs
c.1554_1557del4
17 papers
NM_004960.4
p.H517P
c.1550A>C
1 paper
NM_004960.4
p.E516E
c.1548G>A
1 paper
NM_004960.4
p.E516G
c.1547A>G
15 papers
NM_004960.4
p.E516V
c.1547A>T
97 papers
NM_004960.4
p.H517Q
c.1551C>A
102 papers
NM_004960.4
p.H517Q
c.1551C>G
2 papers
NM_004960.4
p.R518del1
c.1552_1553delAGA
1 paper
NM_004960.4
p.R518_E523del6
c.1552_1568del18
23 papers
NM_004960.4
p.R518G
c.1552A>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."