Varaico: Literature-Extracted Genetic Variants

Gene:ERN1
Variant:p.R5W

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.R5W
c.13C>T
Surrounding Variants
1 paper
NM_001433.5
p.R5insFs
c.13_14ins7
5 papers
NM_001433.5
p.R4R
c.12G>C
5 papers
NM_001433.5
p.R4R
c.12G>A
3 papers
NM_001433.5
p.R5Q
c.14G>A
1 paper
NM_001433.5
p.R5R
c.15G>A
1 paper
NM_001433.5
p.R4Q
c.11G>A
1 paper
NM_001433.5
p.R4delFs
c.10delG
1 paper
NM_001433.5
p.R5insFs
c.14dupG
1 paper
NM_001433.5
p.R4insFs
c.10_11ins28
2 papers
NM_001433.5
p.L6M
c.16C>A
1 paper
NM_001433.5
p.L6L
c.18G>C
1 paper
NM_001433.5
p.A3T
c.7G>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."