Varaico: Literature-Extracted Genetic Variants

Gene:ERN1
Variant:p.V245delFs

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.V245delFs
c.734delA
Surrounding Variants
1 paper
NM_001433.5
p.A246P
c.736G>C
1 paper
NM_001433.5
p.A246T
c.736G>A
1 paper
NM_001433.5
p.V247M
c.739G>A
2 papers
NM_001433.5
p.N244S
c.731A>G
1 paper
NM_001433.5
p.V240E
c.719T>A
1 paper
NM_001433.5
p.R251C
c.751C>T
1 paper
NM_001433.5
p.K239N
c.717G>T
1 paper
NM_001433.5
p.K239N
c.717G>C
1 paper
NM_001433.5
p.Y252F
c.755A>T
1 paper
NM_001433.5
p.L237R
c.710T>G
1 paper
NM_001433.5
p.F255C
c.764T>G
1 paper
NM_001433.5
p.E235K
c.703G>A
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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."