Varaico: Literature-Extracted Genetic Variants

Gene:NFE2L2
Variant:p.E79D

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
7 papers
NM_006164.5
p.E79D
c.237G>T
Surrounding Variants
1 paper
NM_006164.5
p.E78_E79ins0
c.234_236dupAGA
7 papers
NM_006164.5
p.E79D
c.237G>C
2 papers
NM_006164.5
p.E78del1
c.232_233delTTC
10 papers
NM_006164.5
p.E79V
c.236A>T
20 papers
NM_006164.5
p.T80A
c.238A>G
16 papers
NM_006164.5
p.E79G
c.236A>G
9 papers
NM_006164.5
p.T80P
c.238A>C
1 paper
NM_006164.5
p.E79A
c.236A>C
1 paper
NM_006164.5
p.E78_E79del2
c.232_236del6
1 paper
NM_006164.5
p.E79*
c.235G>T
78 papers
NM_006164.5
p.E79Q
c.235G>C
NM_001145412.3
p.E63Q
c.187G>C
68 papers
NM_006164.5
p.E79K
c.235G>A
NM_001313904.1
p.K2K
c.6G>A
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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."