Varaico: Literature-Extracted Genetic Variants

Gene:ERN1
Variant:p.S107T

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.S107T
c.319T>A
Surrounding Variants
1 paper
NM_001433.5
p.S107A
c.319T>G
1 paper
NM_001433.5
p.P108S
c.322C>T
3 papers
NM_001433.5
p.C109S
c.325T>A
1 paper
NM_001433.5
p.Q105E
c.313C>G
3 papers
NM_001433.5
p.C109S
c.326G>C
2 papers
NM_001433.5
p.R110*
c.328C>T
1 paper
NM_001433.5
p.L103F
c.309G>C
2 papers
NM_001433.5
p.L103*
c.308T>A
1 paper
NM_001433.5
p.S111C
c.331A>T
1 paper
NM_001433.5
p.S111_S112ins14
c.331_335ins42
1 paper
NM_001433.5
p.S112A
c.334T>G
4 papers
NM_001433.5
p.E102Q
c.304G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."