Varaico: Literature-Extracted Genetic Variants

Gene:ERN2
Variant:p.Q31H

ERN2

736 papers

Pfam Domains

Pkinaseaa 468–729UCSCProtein kinase domain
Ribonuc_2-5Aaa 735–858UCSCRibonuclease 2-5A

Gene Aliases

HGNC Name

endoplasmic reticulum to nucleus signaling 2

HGNC Alias Symbol

IRE1b

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_033266.4
p.Q31H
c.93G>C
Surrounding Variants
2 papers
NM_033266.4
p.Q31Q
c.93G>A
1 paper
NM_033266.4
p.Q31_V32Splc
c.93+1G>A
1 paper
NM_033266.4
p.Q31L
c.92A>T
1 paper
NM_033266.4
p.L28insFs
c.82dupC
1 paper
NM_033266.4
p.L24L
c.72G>T
1 paper
NM_033266.4
p.L23insFs
c.69dupG
1 paper
NM_033266.4
p.L23L
c.69G>A
1 paper
NM_033266.4
p.L23Q
c.68T>A
1 paper
NM_033266.4
p.A22A
c.66G>A
1 paper
NM_033266.4
p.A21T
c.61G>A
1 paper
NM_033266.4
p.F20I
c.58T>A
1 paper
NM_033266.4
p.Q19_F20insFs
c.57_58ins8
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