Varaico: Literature-Extracted Genetic Variants

Gene:ERN2
Variant:p.S186*

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.S186*
c.557C>A
Surrounding Variants
1 paper
NM_033266.4
p.S186*
c.557C>G
1 paper
NM_033266.4
p.A187A
c.561G>C
1 paper
NM_033266.4
p.P188R
c.563C>G
1 paper
NM_033266.4
p.R183C
c.547C>T
1 paper
NM_033266.4
p.T181I
c.542C>T
1 paper
NM_033266.4
p.T181S
c.541A>T
1 paper
NM_033266.4
p.G192insFs
c.575_576insA
1 paper
NM_033266.4
p.T180I
c.539C>T
1 paper
NM_033266.4
p.N179S
c.536A>G
1 paper
NM_033266.4
p.P194R
c.581C>G
1 paper
NM_033266.4
p.A175A
c.525C>G
1 paper
NM_033266.4
p.P171S
c.511C>T
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