Varaico: Literature-Extracted Genetic Variants

Gene:NFE2L2
Variant:p.E545Q

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
2 papers
NM_006164.5
p.E545Q
c.1633G>C
Surrounding Variants
9 papers
NM_006164.5
p.E545K
c.1633G>A
1 paper
NM_006164.5
p.E545A
c.1634A>C
1 paper
NM_006164.5
p.E545D
c.1635A>T
1 paper
NM_006164.5
p.E545D
c.1635A>C
1 paper
NM_006164.5
p.K543R
c.1628A>G
1 paper
NM_006164.5
p.D547H
c.1639G>C
1 paper
NM_006164.5
p.D547N
c.1639G>A
2 papers
NM_006164.5
p.E542V
c.1625A>T
1 paper
NM_006164.5
p.E542G
c.1625A>G
6 papers
NM_006164.5
p.E542K
c.1624G>A
1 paper
NM_006164.5
p.S549G
c.1645A>G
1 paper
NM_006164.5
p.K548delFs
c.1642_1643delTT
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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."