Varaico: Literature-Extracted Genetic Variants

Gene:NFE2L2
Variant:p.E55Q

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.E55Q
c.163G>C
Surrounding Variants
1 paper
NM_006164.5
p.E55K
c.163G>A
1 paper
NM_006164.5
p.L54F
c.160C>T
2 papers
NM_006164.5
p.L54insFs
c.160_161insA
1 paper
NM_006164.5
p.E47_K53del0
c.139_159del21
1 paper
NM_006164.5
p.S40_K53del0
c.118_159del42
1 paper
NM_006164.5
p.K56Q
c.166A>C
2 papers
NM_006164.5
p.K53N
c.159A>T
3 papers
NM_006164.5
p.K56R
c.167A>G
1 paper
NM_006164.5
p.Y46_K53del0
c.138_158del21
1 paper
NM_006164.5
p.K56N
c.168G>T
1 paper
NM_006164.5
p.K56N
c.168G>C
1 paper
NM_006164.5
p.E49_L54del0
c.145_162del18
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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."