Varaico: Literature-Extracted Genetic Variants

Gene:ERN2
Variant:p.K461Q

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.K461Q
c.1381A>C
Surrounding Variants
1 paper
NM_033266.4
p.V458M
c.1372G>A
1 paper
NM_033266.4
p.L467R
c.1400T>G
1 paper
NM_033266.4
p.Q454_Q455insC
c.1360_1364ins3
1 paper
NM_033266.4
p.D471N
c.1411G>A
1 paper
NM_033266.4
p.H474Y
c.1420C>T
1 paper
NM_033266.4
p.D478A
c.1433A>C
1 paper
NM_033266.4
p.G485E
c.1454G>A
2 papers
NM_033266.4
p.S487T
c.1460G>C
1 paper
NM_033266.4
p.R488Q
c.1463G>A
1 paper
NM_033266.4
p.S496N
c.1487G>A
1 paper
NM_033266.4
p.K499N
c.1497G>T
3 papers
NM_033266.4
p.K499N
c.1497G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."