Varaico: Literature-Extracted Genetic Variants

Gene:NFE2L2
Variant:p.H309Y

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_001145413.3
p.H309Y
c.925C>T
Surrounding Variants
2 papers
NM_006164.5
p.P333L
c.998C>T
1 paper
NM_001145412.3
p.P317P
c.951T>G
1 paper
NM_006164.5
p.E334K
c.1000G>A
1 paper
NM_006164.5
p.Q330*
c.988C>T
1 paper
NM_006164.5
p.N329S
c.986A>G
1 paper
NM_006164.5
p.S335Fs
c.1003delinsGAFs
1 paper
NM_006164.5
p.F328L
c.984C>G
1 paper
NM_006164.5
p.F328L
c.984C>A
1 paper
NM_006164.5
p.F328L
c.982T>C
1 paper
NM_006164.5
p.T336S
c.1006A>T
1 paper
NM_006164.5
p.T336A
c.1006A>G
1 paper
NM_006164.5
p.A327S
c.979G>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."