Varaico: Literature-Extracted Genetic Variants

Gene:ERN1
Variant:p.R48_T49insFs

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.R48_T49insFs
c.144_145ins5
Surrounding Variants
1 paper
NM_001433.5
p.G50A
c.149G>C
1 paper
NM_001433.5
p.G50D
c.149G>A
1 paper
NM_001433.5
p.K47R
c.140A>G
13 papers
NM_001433.5
p.S51A
c.151T>G
1 paper
NM_001433.5
p.K47*
c.139A>T
1 paper
NM_001433.5
p.S51L
c.152C>T
1 paper
NM_001433.5
p.S46N
c.137G>A
1 paper
NM_001433.5
p.V45_S46delFs
c.135_136delTG
1 paper
NM_001433.5
p.I52L
c.154A>C
1 paper
NM_001433.5
p.V45_S46Fs
c.134_136delinsCCFs
1 paper
NM_001433.5
p.I52T
c.155T>C
1 paper
NM_001433.5
p.I52N
c.155T>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."