Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.R514W

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
3 papers
NM_004960.4
p.R514W
c.1540A>T
Surrounding Variants
74 papers
NM_004960.4
p.R514G
c.1540A>G
2 papers
NM_004960.4
p.R514K
c.1541G>A
3 papers
NM_004960.4
p.R514T
c.1541G>C
3 papers
NM_004960.4
p.R514Splc
c.1541+1G>A
70 papers
NM_004960.4
p.R514S
c.1542G>C
70 papers
NM_004960.4
p.R514S
c.1542G>T
20 papers
NM_004960.4
p.S513P
c.1537T>C
4 papers
NM_004960.4
p.M511fs
c.1531_1532fs
7 papers
NM_004960.4
p.M511fs
c.1531_1532fs
23 papers
NM_004960.4
p.K510R
c.1529A>G
9 papers
NM_004960.4
p.K510M
c.1529A>T
1 paper
NM_004960.4
p.K510insFs
c.1528_1529ins4
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."