Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.E516delFs

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
1 paper
NM_004960.4
p.E516delFs
c.1546_1547delGA
Surrounding Variants
1 paper
NM_004960.4
p.G515G
c.1545T>G
1 paper
NM_004960.4
p.G515D
c.1544G>A
1 paper
NM_004960.4
p.E516K
c.1546G>A
2 papers
NM_004960.4
p.E516Q
c.1546G>C
1 paper
NM_004960.4
p.G515_E516ins0
c.1545_1547dupTGA
1 paper
NM_004960.4
p.G515V
c.1544G>T
1 paper
NM_004960.4
p.E516*
c.1546G>T
1 paper
NM_004960.4
p.G515delFs
c.1545delT
1 paper
NM_004960.4
p.E516G
c.1547A>G
15 papers
NM_004960.4
p.E516V
c.1547A>T
3 papers
NM_004960.4
p.G515S
c.1543G>A
21 papers
NM_004960.4
p.G515C
c.1543G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."