Varaico: Literature-Extracted Genetic Variants

Gene:ERN2
Variant:p.E613D

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.E613D
c.1839G>C
Surrounding Variants
1 paper
NM_033266.4
p.L612M
c.1834C>A
1 paper
NM_033266.4
p.P605S
c.1813C>T
1 paper
NM_033266.4
p.N604T
c.1811A>C
1 paper
NM_033266.4
p.N604H
c.1810A>C
2 papers
NM_033266.4
p.L631insFs
c.1892_1893dupTA
1 paper
NM_033266.4
p.E600K
c.1798G>A
1 paper
NM_033266.4
p.Q599E
c.1795C>G
1 paper
NM_033266.4
p.A590D
c.1769C>A
1 paper
NM_033266.4
p.H635Y
c.1903C>T
1 paper
NM_033266.4
p.T646T
c.1938C>G
1 paper
NM_033266.4
p.P648L
c.1943C>T
1 paper
NM_033266.4
p.D649H
c.1945G>C
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