Varaico: Literature-Extracted Genetic Variants

Gene:ERN1
Variant:p.L147F

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.L147F
c.439C>T
Surrounding Variants
4 papers
NM_001433.5
p.C148S
c.442T>A
4 papers
NM_001433.5
p.C148S
c.443G>C
1 paper
NM_001433.5
p.D145V
c.434A>T
1 paper
NM_001433.5
p.D145Y
c.433G>T
1 paper
NM_001433.5
p.D145N
c.433G>A
1 paper
NM_001433.5
p.A144_D145ins5
c.430_434ins15
1 paper
NM_001433.5
p.T151I
c.452C>T
1 paper
NM_001433.5
p.S152insFs
c.454_455insC
1 paper
NM_001433.5
p.S152C
c.455C>G
1 paper
NM_001433.5
p.S141T
c.421T>A
1 paper
NM_001433.5
p.L154M
c.460C>A
1 paper
NM_001433.5
p.L154insFs
c.460dupC
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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."