Varaico: Literature-Extracted Genetic Variants

Gene:NFE2L2
Variant:p.D77A

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.D77A
c.230A>C
Surrounding Variants
13 papers
NM_006164.5
p.D77V
c.230A>T
26 papers
NM_006164.5
p.D77G
c.230A>G
1 paper
NM_006164.5
p.D77E
c.231T>G
1 paper
NM_006164.5
p.D77E
c.231T>A
10 papers
NM_006164.5
p.D77Y
c.229G>T
13 papers
NM_006164.5
p.D77H
c.229G>C
6 papers
NM_006164.5
p.D77N
c.229G>A
5 papers
NM_006164.5
p.E78K
c.232G>A
1 paper
NM_006164.5
p.L76_E78del0
c.227_232del6
1 paper
NM_006164.5
p.D77del1
c.229_230delATC
1 paper
NM_006164.5
p.E79*
c.235G>T
78 papers
NM_006164.5
p.E79Q
c.235G>C
NM_001145412.3
p.E63Q
c.187G>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."