Varaico: Literature-Extracted Genetic Variants

Gene:ERN1
Variant:p.F34I

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.F34I
c.100T>A
Surrounding Variants
2 papers
NM_001433.5
p.L33W
c.98T>G
1 paper
NM_001433.5
p.V35L
c.103G>C
1 paper
NM_001433.5
p.S36A
c.106T>G
1 paper
NM_001433.5
p.S36P
c.106T>C
1 paper
NM_001433.5
p.S36S
c.108A>G
1 paper
NM_001433.5
p.T37P
c.109A>C
1 paper
NM_001433.5
p.T37_L38insFs
c.111_112ins14
1 paper
NM_001433.5
p.E30G
c.89A>G
1 paper
NM_001433.5
p.L38M
c.112C>A
1 paper
NM_001433.5
p.D39N
c.115G>A
1 paper
NM_001433.5
p.P29S
c.85C>T
1 paper
NM_001433.5
p.D39A
c.116A>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."