Varaico: Literature-Extracted Genetic Variants

Gene:NFE2L2
Variant:p.A452T

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.A452T
c.1354G>A
Surrounding Variants
1 paper
NM_001145413.3
p.E428G
c.1283A>G
1 paper
NM_006164.5
p.E451K
c.1351G>A
2 papers
NM_001145412.3
p.H437Y
c.1309C>T
NM_006164.5
p.H453Y
c.1357C>T
1 paper
NM_006164.5
p.H453L
c.1358A>T
16 papers
NM_006164.5
p.R449H
c.1346G>A
NM_001145412.3
p.R433H
c.1298G>A
NM_001145413.3
p.R426H
c.1277G>A
2 papers
NM_006164.5
p.R449C
c.1345C>T
1 paper
NM_006164.5
p.T455S
c.1363A>T
1 paper
NM_006164.5
p.T455P
c.1363A>C
1 paper
NM_001145413.3
p.R433K
c.1298G>A
1 paper
NM_006164.5
p.D457A
c.1370A>C
3 papers
NM_006164.5
p.H446R
c.1337A>G
1 paper
NM_006164.5
p.D444_K445del2
c.1330_1334del6
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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."