Varaico: Literature-Extracted Genetic Variants

Gene:ERN2
Variant:p.L16H

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.L16H
c.47T>A
Surrounding Variants
1 paper
NM_033266.4
p.L16I
c.46C>A
1 paper
NM_033266.4
p.Q17R
c.50A>G
1 paper
NM_033266.4
p.L14L
c.42G>A
1 paper
NM_033266.4
p.L18L
c.54C>A
1 paper
NM_033266.4
p.R13R
c.39G>A
1 paper
NM_033266.4
p.Q19E
c.55C>G
1 paper
NM_033266.4
p.R13Q
c.38G>A
1 paper
NM_033266.4
p.Q19_F20insFs
c.57_58ins8
1 paper
NM_033266.4
p.F20I
c.58T>A
1 paper
NM_033266.4
p.P12L
c.35C>T
1 paper
NM_033266.4
p.P12H
c.35C>A
1 paper
NM_033266.4
p.P12S
c.34C>T
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