Varaico: Literature-Extracted Genetic Variants

Gene:ERN2
Variant:p.M1L

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
2 papers
NM_033266.4
p.M1L
c.1A>T
Surrounding Variants
2 papers
NM_033266.4
p.M1L
c.1A>C
1 paper
NM_033266.4
p.M1I
c.3G>T
1 paper
NM_033266.4
p.M1I
c.3G>C
1 paper
NM_033266.4
p.M1I
c.3G>A
1 paper
NM_033266.4
p.M1delFs
c.2delA
1 paper
NM_033266.4
p.A2insFs
c.4_5insT
1 paper
NM_033266.4
p.M1insFs
c.3dupG
1 paper
NM_033266.4
p.S3G
c.7A>G
1 paper
NM_033266.4
p.S3N
c.8G>A
1 paper
NM_033266.4
p.A4insFs
c.10_11ins28
1 paper
NM_033266.4
p.S3delFs
c.9delA
1 paper
NM_033266.4
p.A4V
c.11C>T
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