Varaico: Literature-Extracted Genetic Variants

Gene:ERN1
Variant:p.E70*

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
9 papers
NM_001433.5
p.E70*
c.208G>T
Surrounding Variants
1 paper
NM_001433.5
p.L74F
c.220C>T
1 paper
NM_001433.5
p.P77L
c.230C>T
1 paper
NM_001433.5
p.N78S
c.233A>G
1 paper
NM_001433.5
p.D79N
c.235G>A
1 paper
NM_001433.5
p.G80R
c.238G>C
1 paper
NM_001433.5
p.T84S
c.250A>T
1 paper
NM_001433.5
p.G86R
c.256G>C
1 paper
NM_001433.5
p.G86R
c.256G>A
1 paper
NM_001433.5
p.S87S
c.261C>T
1 paper
NM_001433.5
p.S87R
c.261C>G
1 paper
NM_001433.5
p.K88R
c.263A>G
1 paper
NM_001433.5
p.K88K
c.264G>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."