Varaico: Literature-Extracted Genetic Variants

Gene:NFE2L2
Variant:p.E379K

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.E379K
c.1135G>A
Surrounding Variants
1 paper
NM_006164.5
p.E380Q
c.1138G>C
1 paper
NM_006164.5
p.V378M
c.1132G>A
1 paper
NM_006164.5
p.E377K
c.1129G>A
1 paper
NM_006164.5
p.S376C
c.1127C>G
2 papers
NM_006164.5
p.D382N
c.1144G>A
3 papers
NM_006164.5
p.D375N
c.1123G>A
3 papers
NM_006164.5
p.S383N
c.1148G>A
1 paper
NM_006164.5
p.A384T
c.1150G>A
2 papers
NM_006164.5
p.A384V
c.1151C>T
1 paper
NM_006164.5
p.A384A
c.1152C>T
1 paper
NM_006164.5
p.G386R
c.1156G>C
1 paper
NM_006164.5
p.G386R
c.1156G>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."