Varaico: Literature-Extracted Genetic Variants

Gene:EWSR1
Variant:p.Y44S

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
2 papers
NM_005243.4
p.Y44S
c.131A>C
Surrounding Variants
1 paper
NM_005243.4
p.T43_Y44del1
c.129_131delCTA
1 paper
NM_005243.4
p.G42E
c.125G>A
1 paper
NM_005243.4
p.P47S
c.139C>T
1 paper
NM_005243.4
p.T48I
c.143C>T
2 papers
NM_005243.4
p.S40C
c.118A>T
1 paper
NM_005243.4
p.S51N
c.152G>A
1 paper
NM_005243.4
p.G37R
c.109G>A
1 paper
NM_005243.4
p.G37R
c.109G>C
2 papers
NM_005243.4
p.A35fs
c.103_104fs
1 paper
NM_005243.4
p.Q56*
c.166C>T
1 paper
NM_005243.4
p.A59G
c.176C>G
1 paper
NM_005243.4
p.T60S
c.178A>T
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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."