Varaico: Literature-Extracted Genetic Variants

Gene:EWSR1
Variant:p.P122L

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.P122L
c.365C>T
Surrounding Variants
1 paper
NM_005243.4
p.Y127C
c.380A>G
1 paper
NM_005243.4
p.A117V
c.350C>T
2 papers
NM_005243.4
p.S116C
c.347C>G
1 paper
NM_005243.4
p.G128V
c.383G>T
1 paper
NM_005243.4
p.Q129_P131del3
c.385_392del9
1 paper
NM_005243.4
p.A113V
c.338C>T
2 papers
NM_005243.4
p.A132S
c.394G>T
1 paper
NM_005243.4
p.Y112fs
c.334_335fs
1 paper
NM_005243.4
p.Y112delFs
c.335_336delAT
1 paper
NM_005243.4
p.A133delFs
c.398delC
2 papers
NM_005243.4
p.A110V
c.329C>T
1 paper
NM_013986.4
p.A116S
c.346G>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."