Varaico: Literature-Extracted Genetic Variants

Gene:NFE2L2
Variant:p.L30H

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
9 papers
NM_006164.5
p.L30H
c.89T>A
Surrounding Variants
11 papers
NM_006164.5
p.L30R
c.89T>G
11 papers
NM_006164.5
p.L30P
c.89T>C
NM_001145412.3
p.L14P
c.41T>C
1 paper
NM_006164.5
p.L30L
c.90T>G
1 paper
NM_006164.5
p.L30L
c.90T>C
39 papers
NM_006164.5
p.L30F
c.88C>T
1 paper
NM_006164.5
p.L30ins3
c.88_89ins9
1 paper
NM_006164.5
p.I28_D29del0
c.82_87del6
1 paper
NM_006164.5
p.D29E
c.87T>G
1 paper
NM_006164.5
p.G31*
c.91G>T
22 papers
NM_006164.5
p.G31R
c.91G>C
22 papers
NM_006164.5
p.G31R
c.91G>A
15 papers
NM_006164.5
p.G31V
c.92G>T
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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."