Varaico: Literature-Extracted Genetic Variants

Gene:ERN1
Variant:p.Q137*

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.Q137*
c.409C>T
Surrounding Variants
1 paper
NM_001433.5
p.K135_Q136del2
c.403_407del6
1 paper
NM_001433.5
p.T138A
c.412A>G
1 paper
NM_001433.5
p.K135E
c.403A>G
1 paper
NM_001433.5
p.E134delFs
c.400delC
1 paper
NM_001433.5
p.G133G
c.399A>T
1 paper
NM_001433.5
p.S141T
c.421T>A
1 paper
NM_001433.5
p.A144_D145ins5
c.430_434ins15
1 paper
NM_001433.5
p.D145Y
c.433G>T
1 paper
NM_001433.5
p.D129Y
c.385G>T
1 paper
NM_001433.5
p.D145N
c.433G>A
1 paper
NM_001433.5
p.D145V
c.434A>T
2 papers
NM_001433.5
p.I128F
c.382A>T
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