Varaico: Literature-Extracted Genetic Variants

Gene:ERN1
Variant:p.L8P

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.L8P
c.23T>C
Surrounding Variants
1 paper
NM_001433.5
p.L8V
c.22C>G
1 paper
NM_001433.5
p.L7insFs
c.20_21ins17
1 paper
NM_001433.5
p.L9Q
c.26T>A
1 paper
NM_001433.5
p.L9L
c.27G>A
1 paper
NM_001433.5
p.L7V
c.19C>G
1 paper
NM_001433.5
p.L6L
c.18G>C
2 papers
NM_001433.5
p.L10P
c.29T>C
1 paper
NM_001433.5
p.L10L
c.30G>C
1 paper
NM_001433.5
p.R5insFs
c.14dupG
2 papers
NM_001433.5
p.L6M
c.16C>A
1 paper
NM_001433.5
p.R5R
c.15G>A
1 paper
NM_001433.5
p.T11A
c.31A>G
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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."