Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.Q199P

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.Q199P
c.596A>C
Surrounding Variants
1 paper
NM_004960.4
p.Q199*
c.595C>T
1 paper
NM_004960.4
p.D198A
c.593A>C
1 paper
NM_004960.4
p.D198N
c.592G>A
1 paper
NM_004960.4
p.G201S
c.601G>A
1 paper
NM_004960.4
p.G201D
c.602G>A
1 paper
NM_004960.4
p.G201A
c.602G>C
2 papers
NM_004960.4
p.G201V
c.602G>T
1 paper
NM_004960.4
p.Q197*
c.589C>T
1 paper
NM_004960.4
p.G202R
c.604G>A
1 paper
NM_004960.4
p.G202R
c.604G>C
1 paper
NM_004960.4
p.N196T
c.587A>C
1 paper
NM_004960.4
p.G195G
c.585C>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."