Varaico: Literature-Extracted Genetic Variants

Gene:NFE2L2
Variant:p.E423D

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.E423D
c.1269G>T
Surrounding Variants
1 paper
NM_006164.5
p.E423D
c.1269G>C
1 paper
NM_006164.5
p.T425A
c.1273A>G
1 paper
NM_006164.5
p.P426L
c.1277C>T
1 paper
NM_006164.5
p.A420V
c.1259C>T
2 papers
NM_006164.5
p.A420T
c.1258G>A
1 paper
NM_006164.5
p.D419N
c.1255G>A
1 paper
NM_006164.5
p.K428R
c.1283A>G
1 paper
NM_006164.5
p.K428N
c.1284A>T
1 paper
NM_006164.5
p.K428N
c.1284A>C
1 paper
NM_006164.5
p.E429K
c.1285G>A
1 paper
NM_006164.5
p.L430L
c.1288T>C
1 paper
NM_006164.5
p.V417insFs
c.1249_1250insA
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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."