Varaico: Literature-Extracted Genetic Variants

Gene:NFE2L2
Variant:p.T80K

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
39 papers
NM_006164.5
p.T80K
c.239C>A
Surrounding Variants
8 papers
NM_006164.5
p.T80I
c.239C>T
13 papers
NM_006164.5
p.T80R
c.239C>G
20 papers
NM_006164.5
p.T80A
c.238A>G
1 paper
NM_006164.5
p.T80T
c.240A>G
9 papers
NM_006164.5
p.T80P
c.238A>C
1 paper
NM_006164.5
p.E78_E79del2
c.232_236del6
11 papers
NM_006164.5
p.G81C
c.241G>T
7 papers
NM_006164.5
p.E79D
c.237G>T
1 paper
NM_006164.5
p.G81_E82insCTT
c.241_245ins9
1 paper
NM_006164.5
p.E78_E79ins0
c.234_236dupAGA
7 papers
NM_006164.5
p.G81R
c.241G>C
7 papers
NM_006164.5
p.E79D
c.237G>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."