Varaico: Literature-Extracted Genetic Variants

Gene:EWSR1
Variant:p.G511A

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_001163285.2
p.G511A
c.1532G>C
Surrounding Variants
1 paper
NM_005243.4
p.G512R
c.1534G>A
1 paper
NM_005243.4
p.G512R
c.1534G>C
7 papers
NM_005243.4
p.G511A
c.1532G>C
1 paper
NM_005243.4
p.G511R
c.1531G>A
1 paper
NM_005243.4
p.G511R
c.1531G>C
2 papers
NM_005243.4
p.S510F
c.1529C>T
3 papers
NM_005243.4
p.H517Q
c.1551C>A
3 papers
NM_005243.4
p.H517Q
c.1551C>G
1 paper
NM_005243.4
p.R506Q
c.1517G>A
1 paper
NM_005243.4
p.R518Q
c.1553G>A
1 paper
NM_005243.4
p.G504fs
c.1510_1511fs
1 paper
NM_005243.4
p.P525A
c.1573C>G
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