Varaico: Literature-Extracted Genetic Variants

Gene:NFE2L2
Variant:p.E580Q

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
1 paper
NM_006164.5
p.E580Q
c.1738G>C
Surrounding Variants
2 papers
NM_006164.5
p.E580K
c.1738G>A
1 paper
NM_006164.5
p.E580A
c.1739A>C
1 paper
NM_006164.5
p.P578L
c.1733C>T
1 paper
NM_006164.5
p.S577F
c.1730C>T
1 paper
NM_006164.5
p.Y576Y
c.1728T>C
1 paper
NM_006164.5
p.L583L
c.1749G>C
1 paper
NM_006164.5
p.Y576F
c.1727A>T
1 paper
NM_006164.5
p.K574R
c.1721A>G
1 paper
NM_006164.5
p.T586I
c.1757C>T
1 paper
NM_006164.5
p.D588G
c.1763A>G
1 paper
NM_006164.5
p.E571fs
c.1711_1712fs
1 paper
NM_006164.5
p.D588D
c.1764T>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."