Varaico: Literature-Extracted Genetic Variants

Gene:EWSR1
Variant:p.Q24H

EWSR1

399 papers

RefSeq Summary

This gene encodes a multifunctional protein that is involved in various cellular processes, including gene expression, cell signaling, and RNA processing and transport. The protein includes an N-termi...

Pfam Domains

RRM_1aa 363–441UCSCRNA recognition motif
Zn_ribbon_RanBPaa 518–549UCSCZn-finger in Ran binding protein and others

Gene Aliases

HGNC Name

EWS RNA binding protein 1

HGNC Alias Symbol

EWS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005243.4
p.Q24H
c.72G>C
Surrounding Variants
1 paper
NM_005243.4
p.Q24H
c.72G>T
1 paper
NM_005243.4
p.P25P
c.75C>A
1 paper
NM_005243.4
p.P25P
c.75C>G
1 paper
NM_005243.4
p.A23T
c.67G>A
1 paper
NM_005243.4
p.A30P
c.88G>C
1 paper
NM_005243.4
p.Y18F
c.53A>T
3 papers
NM_005243.4
p.Q31Q
c.93G>A
1 paper
NM_005243.4
p.Q31H
c.93G>C
1 paper
NM_005243.4
p.G17S
c.49G>A
1 paper
NM_005243.4
p.Q15*
c.43C>T
1 paper
NM_005243.4
p.A12_A13insFs
c.36_37insC
1 paper
NM_005243.4
p.Y6delFs
c.18delC
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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."