Varaico: Literature-Extracted Genetic Variants

Gene:ERN2
Variant:p.R671C

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.R671C
c.2011C>T
Surrounding Variants
1 paper
NM_033266.4
p.S673N
c.2018G>A
1 paper
NM_033266.4
p.S675G
c.2023A>G
1 paper
NM_033266.4
p.L663L
c.1989C>T
1 paper
NM_033266.4
p.G662S
c.1984G>A
2 papers
NM_033266.4
p.P681R
c.2042C>G
3 papers
NM_033266.4
p.P681H
c.2042C>A
1 paper
NM_033266.4
p.D660A
c.1979A>C
1 paper
NM_033266.4
p.D660N
c.1978G>A
1 paper
NM_033266.4
p.S678_P681del4
c.2032_2042del12
1 paper
NM_033266.4
p.A688V
c.2063C>T
1 paper
NM_033266.4
p.L653R
c.1958T>G
1 paper
NM_033266.4
p.G652A
c.1955G>C
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