Varaico: Literature-Extracted Genetic Variants

Gene:NFE2L2
Variant:p.D27V

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.D27V
c.80A>T
Surrounding Variants
8 papers
NM_006164.5
p.D27G
c.80A>G
1 paper
NM_006164.5
p.D21_D27delFs
c.61_79del19
1 paper
NM_006164.5
p.D27_I28ins1
c.81_82insCTT
1 paper
NM_006164.5
p.Q26_D27delFs
c.78_79delCT
11 papers
NM_006164.5
p.D27Y
c.79G>T
8 papers
NM_006164.5
p.D27H
c.79G>C
3 papers
NM_006164.5
p.D27N
c.79G>A
3 papers
NM_006164.5
p.Q26H
c.78A>T
1 paper
NM_006164.5
p.I28L
c.82A>T
4 papers
NM_006164.5
p.Q26H
c.78A>C
2 papers
NM_006164.5
p.I28L
c.82A>C
1 paper
NM_006164.5
p.I28insFs
c.83_84insC
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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."