Varaico: Literature-Extracted Genetic Variants

Gene:ERN2
Variant:p.S54N

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.S54N
c.161G>A
Surrounding Variants
1 paper
NM_033266.4
p.S54S
c.162C>T
1 paper
NM_033266.4
p.K55E
c.163A>G
1 paper
NM_033266.4
p.A52S
c.154G>T
1 paper
NM_033266.4
p.A52P
c.154G>C
2 papers
NM_033266.4
p.Q56Q
c.168G>A
1 paper
NM_033266.4
p.L50R
c.149T>G
4 papers
NM_033266.4
p.L50P
c.149T>C
1 paper
NM_033266.4
p.S49R
c.147T>A
1 paper
NM_033266.4
p.G48_S49insFs
c.144_145ins5
1 paper
NM_033266.4
p.L60L
c.180G>T
1 paper
NM_033266.4
p.L46L
c.138G>A
1 paper
NM_033266.4
p.T45_L46Fs
c.134_136delinsCCFs
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