Varaico: Literature-Extracted Genetic Variants

Gene:ERN1
Variant:p.G18E

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
2 papers
NM_001433.5
p.G18E
c.53G>A
Surrounding Variants
2 papers
NM_001433.5
p.G18R
c.52G>C
2 papers
NM_001433.5
p.G18R
c.52G>A
1 paper
NM_001433.5
p.G18_I19Splc
c.54+1G>A
2 papers
NM_001433.5
p.L17L
c.51C>A
1 paper
NM_001433.5
p.L17P
c.50T>C
1 paper
NM_001433.5
p.L17H
c.50T>A
1 paper
NM_001433.5
p.G16D
c.47G>A
1 paper
NM_001433.5
p.P15A
c.43C>G
1 paper
NM_001433.5
p.L14L
c.42G>A
1 paper
NM_001433.5
p.L13L
c.39G>A
1 paper
NM_001433.5
p.L13R
c.38T>G
1 paper
NM_001433.5
p.L13P
c.38T>C
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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."