Varaico: Literature-Extracted Genetic Variants

Gene:ERN1
Variant:p.Q220*

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
10 papers
NM_001433.5
p.Q220*
c.658C>T
Surrounding Variants
1 paper
NM_001433.5
p.V216I
c.646G>A
1 paper
NM_001433.5
p.D215G
c.644A>G
1 paper
NM_001433.5
p.S213A
c.637T>G
1 paper
NM_001433.5
p.A228S
c.682G>T
1 paper
NM_001433.5
p.V226_V227delFs
c.678_681del4
3 papers
NM_001433.5
p.D210N
c.628G>A
1 paper
NM_001433.5
p.Y230C
c.689A>G
1 paper
NM_001433.5
p.V209M
c.625G>A
1 paper
NM_001433.5
p.T208S
c.623C>G
1 paper
NM_001433.5
p.T208A
c.622A>G
1 paper
NM_001433.5
p.E235K
c.703G>A
1 paper
NM_001433.5
p.L205V
c.613C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."