Varaico: Literature-Extracted Genetic Variants

Gene:NFE2L2
Variant:p.R27Q

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_001145412.3
p.R27Q
c.80G>A
NM_006164.5
p.R43Q
c.128G>A
Surrounding Variants
1 paper
NM_006164.5
p.R43P
c.128G>C
1 paper
NM_006164.5
p.Q41_R43delins
c.121_129delinsTTG
1 paper
NM_006164.5
p.F39_R43del0
c.117_128del12
1 paper
NM_006164.5
p.R34_R43del0
c.102_128del27
3 papers
NM_006164.5
p.R43W
c.127C>T
2 papers
NM_006164.5
p.R43G
c.127C>G
1 paper
NM_006164.5
p.E35_R42del0
c.103_126del24
1 paper
NM_001145412.3
p.R26R
c.78A>C
1 paper
NM_006164.5
p.R43delFs
c.129delC
1 paper
NM_006164.5
p.R42P
c.125G>C
1 paper
NM_006164.5
p.R42Q
c.125G>A
3 papers
NM_006164.5
p.K44I
c.131A>T
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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."