Varaico: Literature-Extracted Genetic Variants

Gene:ERN2
Variant:p.Q331*

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.Q331*
c.991C>T
Surrounding Variants
1 paper
NM_033266.4
p.Q331K
c.991C>A
1 paper
NM_033266.4
p.S333A
c.997T>G
1 paper
NM_033266.4
p.S333*
c.998C>G
1 paper
NM_033266.4
p.S333*
c.998C>A
1 paper
NM_033266.4
p.D326N
c.976G>A
1 paper
NM_033266.4
p.T325insFs
c.974dupC
1 paper
NM_033266.4
p.E337A
c.1010A>C
4 papers
NM_033266.4
p.P323L
c.968C>T
1 paper
NM_033266.4
p.A320S
c.958G>T
1 paper
NM_033266.4
p.P319S
c.955C>T
1 paper
NM_033266.4
p.L315_T316delFs
c.945_948del4
1 paper
NM_033266.4
p.G314R
c.940G>C
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