Varaico: Literature-Extracted Genetic Variants

Gene:ERN1
Variant:p.K799N

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.K799N
c.2397G>C
Surrounding Variants
1 paper
NM_001433.5
p.K799N
c.2397G>T
1 paper
NM_001433.5
p.P797_E798del2
c.2389_2393del6
1 paper
NM_001433.5
p.E798Q
c.2392G>C
1 paper
NM_001433.5
p.R781delFs
c.2343delC
1 paper
NM_001433.5
p.R781W
c.2341C>T
2 papers
NM_001433.5
p.Q780*
c.2338C>T
2 papers
NM_001433.5
p.L779P
c.2336T>C
1 paper
NM_001433.5
p.I768_S769delFs
c.2303_2306del4
5 papers
NM_001433.5
p.S769F
c.2306C>T
1 paper
NM_001433.5
p.Y766insFs
c.2296_2297insC
1 paper
NM_001433.5
p.V763A
c.2288T>C
1 paper
NM_001433.5
p.V763L
c.2287G>C
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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."