Varaico: Literature-Extracted Genetic Variants

Gene:ERN2
Variant:p.V547_K548insFs

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.V547_K548insFs
c.1641_1642insG
Surrounding Variants
2 papers
NM_033266.4
p.K548K
c.1644G>A
1 paper
NM_033266.4
p.R549Q
c.1646G>A
1 paper
NM_033266.4
p.V545M
c.1633G>A
1 paper
NM_033266.4
p.L551I
c.1651C>A
1 paper
NM_033266.4
p.G542*
c.1624G>T
1 paper
NM_033266.4
p.Q539R
c.1616A>G
1 paper
NM_033266.4
p.R537R
c.1611G>A
1 paper
NM_033266.4
p.R537L
c.1610G>T
3 papers
NM_033266.4
p.R537Q
c.1610G>A
1 paper
NM_033266.4
p.E561K
c.1681G>A
1 paper
NM_033266.4
p.S568A
c.1702T>G
1 paper
NM_033266.4
p.A590D
c.1769C>A
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