Varaico: Literature-Extracted Genetic Variants

Gene:NFE2L2
Variant:p.R569H

NFE2L2

1,072 papers

RefSeq Summary

This gene encodes a transcription factor which is a member of a small family of basic leucine zipper (bZIP) proteins. The encoded transcription factor regulates genes which contain antioxidant respons...

Pfam Domains

bZIP_Mafaa 395–488UCSCbZIP Maf transcription factor

Gene Aliases

HGNC Name

NFE2 like bZIP transcription factor 2

HGNC Alias Symbols

NRF2; NRF-2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_006164.5
p.R569H
c.1706G>A
Surrounding Variants
2 papers
NM_006164.5
p.R569C
c.1705C>T
1 paper
NM_001145413.3
p.R546G
c.1636C>G
2 papers
NM_006164.5
p.D570N
c.1708G>A
1 paper
NM_006164.5
p.L568L
c.1702C>T
1 paper
NM_006164.5
p.E571K
c.1711G>A
1 paper
NM_006164.5
p.M567V
c.1699A>G
1 paper
NM_006164.5
p.E571fs
c.1711_1712fs
1 paper
NM_006164.5
p.S566N
c.1697G>A
1 paper
NM_006164.5
p.V564_F565insFs
c.1692_1693insT
1 paper
NM_006164.5
p.K574R
c.1721A>G
1 paper
NM_006164.5
p.V564I
c.1690G>A
1 paper
NM_006164.5
p.E563V
c.1688A>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."