Varaico: Literature-Extracted Genetic Variants

Gene:ERN1
Variant:p.I124T

ERN1

1,022 papers

RefSeq Summary

This gene encodes the transmembrane protein kinase inositol-requiring enzyme 1. The encoded protein contains two functional catalytic domains, a serine/threonine-protein kinase domain and an endoribon...

Pfam Domains

Pkinaseaa 571–832UCSCProtein kinase domain
Ribonuc_2-5Aaa 838–961UCSCRibonuclease 2-5A

Gene Aliases

HGNC Name

endoplasmic reticulum to nucleus signaling 1

HGNC Alias Symbols

IRE1; IRE1P

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001433.5
p.I124T
c.371T>C
Surrounding Variants
1 paper
NM_001433.5
p.I124L
c.370A>C
1 paper
NM_001433.5
p.W125G
c.373T>G
1 paper
NM_001433.5
p.W125R
c.373T>A
1 paper
NM_001433.5
p.W125L
c.374G>T
1 paper
NM_001433.5
p.D123N
c.367G>A
3 papers
NM_001433.5
p.Y126N
c.376T>A
1 paper
NM_001433.5
p.Y126*
c.378T>A
1 paper
NM_001433.5
p.Q122*
c.364C>T
1 paper
NM_001433.5
p.K121_Q122ins1
c.363_364insACA
1 paper
NM_001433.5
p.K121K
c.363G>A
2 papers
NM_001433.5
p.I128F
c.382A>T
1 paper
NM_001433.5
p.D129Y
c.385G>T
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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."