Varaico: Literature-Extracted Genetic Variants

Gene:ERN1
Variant:p.M1insFs

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.M1insFs
c.3dupG
Surrounding Variants
4 papers
NM_001433.5
p.P2S
c.4C>T
1 paper
NM_001433.5
p.P2insFs
c.4_5insT
1 paper
NM_001433.5
p.P2T
c.4C>A
2 papers
NM_001433.5
p.M1I
c.3G>T
1 paper
NM_001433.5
p.M1I
c.3G>C
2 papers
NM_001433.5
p.M1I
c.3G>A
1 paper
NM_001433.5
p.M1delFs
c.2delA
1 paper
NM_001433.5
p.M1T
c.2T>C
1 paper
NM_001433.5
p.A3T
c.7G>A
3 papers
NM_001433.5
p.M1L
c.1A>T
1 paper
NM_001433.5
p.M1V
c.1A>G
3 papers
NM_001433.5
p.M1L
c.1A>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."