Varaico: Literature-Extracted Genetic Variants

Gene:NFE2L2
Variant:p.I28_S33del0

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.I28_S33del0
c.84_98del15
Surrounding Variants
1 paper
NM_006164.5
p.S33R
c.99T>G
1 paper
NM_006164.5
p.S33R
c.99T>A
1 paper
NM_006164.5
p.R34*
c.100C>T
59 papers
NM_006164.5
p.R34G
c.100C>G
1 paper
NM_006164.5
p.S33del1
c.97_98delACT
1 paper
NM_006164.5
p.I28_S33del0
c.82_99del18
1 paper
NM_006164.5
p.R34fs
c.100_101fs
6 papers
NM_006164.5
p.R34L
c.101G>T
40 papers
NM_006164.5
p.R34P
c.101G>C
47 papers
NM_006164.5
p.R34Q
c.101G>A
1 paper
NM_006164.5
p.S33C
c.97A>T
1 paper
NM_006164.5
p.S33R
c.97A>C
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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."