Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.R495Q

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
6 papers
NM_004960.4
p.R495Q
c.1484G>A
Surrounding Variants
11 papers
NM_004960.4
p.R495delFs
c.1485delA
5 papers
NM_004960.4
p.G497insFs
c.1489_1490dupGG
1 paper
NM_004960.4
p.R495R
c.1485A>T
2 papers
NM_004960.4
p.G496delFs
c.1486delG
1 paper
NM_004960.4
p.G496_G501del6
c.1486_1502del18
1 paper
NM_004960.4
p.G496_G507del12
c.1486_1520del36
1 paper
NM_004960.4
p.R495_G496ins6
c.1483_1487ins18
215 papers
NM_004960.4
p.R495*
c.1483C>T
11 papers
NM_004960.4
p.R495delFs
c.1484delG
9 papers
NM_004960.4
p.R495fs
c.1483_1484fs
1 paper
NM_004960.4
p.R495insFs
c.1483_1484insC
14 papers
NM_004960.4
p.R495delFs
c.1483delC
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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."