Varaico: Literature-Extracted Genetic Variants

Gene:EWSR1

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
1–12 of 261 variants
7 papers
NM_005243.4
p.G511A
c.1532G>C
7 papers
NM_005243.4
p.P525L
c.1574C>T
3 papers
NM_005243.4
p.Q31Q
c.93G>A
3 papers
NM_005243.4
p.R471C
c.1411C>T
3 papers
NM_005243.4
p.H517Q
c.1551C>A
3 papers
NM_005243.4
p.H517Q
c.1551C>G
2 papers
NM_005243.4
p.A35fs
c.103_104fs
2 papers
NM_005243.4
p.S40C
c.118A>T
2 papers
NM_005243.4
p.Y44S
c.131A>C
2 papers
NM_005243.4
p.T108A
c.322A>G
2 papers
NM_005243.4
p.A110V
c.329C>T
2 papers
NM_005243.4
p.S116C
c.347C>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."