Varaico: Literature-Extracted Genetic Variants

Gene:NFE2L2
Variant:p.P233S

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
5 papers
NM_006164.5
p.P233S
c.697C>T
Surrounding Variants
1 paper
NM_006164.5
p.H227_I232del6
c.679_695del18
1 paper
NM_006164.5
p.I232_P233insFs
c.696_697insT
1 paper
NM_006164.5
p.M235V
c.703A>G
1 paper
NM_006164.5
p.M235T
c.704T>C
3 papers
NM_006164.5
p.M235I
c.705G>T
3 papers
NM_006164.5
p.M235I
c.705G>C
3 papers
NM_006164.5
p.M235I
c.705G>A
1 paper
NM_006164.5
p.E236*
c.706G>T
1 paper
NM_006164.5
p.E236K
c.706G>A
1 paper
NM_006164.5
p.Y229fs
c.685_686fs
5 papers
NM_006164.5
p.Y229C
c.686A>G
1 paper
NM_006164.5
p.Y229N
c.685T>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."