Varaico: Literature-Extracted Genetic Variants

Gene:NFE2L2
Variant:p.F39C

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.F39C
c.116T>G
Surrounding Variants
1 paper
NM_006164.5
p.S40_Q41ins5
c.118_122ins15
1 paper
NM_006164.5
p.R34_F39del0
c.100_117del18
1 paper
NM_006164.5
p.S40T
c.119G>C
1 paper
NM_006164.5
p.F37_S40del0
c.110_118del9
1 paper
NM_001145412.3
p.D22insFs
c.65_66insC
1 paper
NM_006164.5
p.R34_D38del0
c.101_112del12
2 papers
NM_001145412.3
p.S24S
c.72T>C
1 paper
NM_006164.5
p.D38Y
c.112G>T
1 paper
NM_006164.5
p.D38H
c.112G>C
1 paper
NM_006164.5
p.D38N
c.112G>A
3 papers
NM_006164.5
p.F37del1
c.109_110delAAA
1 paper
NM_006164.5
p.V36_F37delFs
c.108_111del4
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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."