Varaico: Literature-Extracted Genetic Variants

Gene:ERN1
Variant:p.S22R

ERN1

1,022 papers

RefSeq Summary

This gene encodes the transmembrane protein kinase inositol-requiring enzyme 1. The encoded protein contains two functional catalytic domains, a serine/threonine-protein kinase domain and an endoribon...

Pfam Domains

Pkinaseaa 571–832UCSCProtein kinase domain
Ribonuc_2-5Aaa 838–961UCSCRibonuclease 2-5A

Gene Aliases

HGNC Name

endoplasmic reticulum to nucleus signaling 1

HGNC Alias Symbols

IRE1; IRE1P

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001433.5
p.S22R
c.64A>C
Surrounding Variants
1 paper
NM_001433.5
p.S22C
c.64A>T
1 paper
NM_001433.5
p.G21G
c.63A>T
1 paper
NM_001433.5
p.S22R
c.66T>G
1 paper
NM_001433.5
p.S22R
c.66T>A
1 paper
NM_001433.5
p.G21R
c.61G>A
1 paper
NM_001433.5
p.F20L
c.60T>A
1 paper
NM_001433.5
p.T23I
c.68C>T
1 paper
NM_001433.5
p.I19_F20insFs
c.57_58ins8
1 paper
NM_001433.5
p.F20I
c.58T>A
12 papers
NM_001433.5
p.S24G
c.70A>G
1 paper
NM_001433.5
p.I19N
c.56T>A
1 paper
NM_001433.5
p.T25K
c.74C>A
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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."