Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.R218K

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.R218K
c.653G>A
Surrounding Variants
1 paper
NM_004960.4
p.R218_G225ins2
c.654_674dup21
1 paper
NM_004960.4
p.R218_G219ins2
c.654_655ins6
1 paper
NM_004960.4
p.S221_G223ins1
c.661_669dup9
1 paper
NM_004960.4
p.G219S
c.655G>A
2 papers
NM_004960.4
p.G219V
c.656G>T
1 paper
NM_004960.4
p.G217R
c.649G>C
1 paper
NM_004960.4
p.R218_S221ins1
c.654_662dup9
1 paper
NM_004960.4
p.R216R
c.648C>T
1 paper
NM_004960.4
p.R218_S221del0
c.654_662del9
1 paper
NM_004960.4
p.R216H
c.647G>A
1 paper
NM_004960.4
p.G220D
c.659G>A
1 paper
NM_004960.4
p.G220A
c.659G>C
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