Varaico: Literature-Extracted Genetic Variants

Gene:NFE2L2
Variant:p.P600R

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
3 papers
NM_006164.5
p.P600R
c.1799C>G
Surrounding Variants
1 paper
NM_006164.5
p.P600S
c.1798C>T
1 paper
NM_006164.5
p.K599R
c.1796A>G
1 paper
NM_006164.5
p.K598Q
c.1792A>C
1 paper
NM_006164.5
p.K603E
c.1807A>G
1 paper
NM_006164.5
p.K603R
c.1808A>G
1 paper
NM_006164.5
p.K596R
c.1787A>G
1 paper
NM_006164.5
p.N605N
c.1815C>T
1 paper
NM_006164.5
p.V594_P595Fs
c.1782_1783delinsGFs
1 paper
NM_006164.5
p.V594I
c.1780G>A
1 paper
NM_006164.5
p.V591A
c.1772T>C
1 paper
NM_006164.5
p.N590S
c.1769A>G
1 paper
NM_006164.5
p.G589C
c.1765G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."