Varaico: Literature-Extracted Genetic Variants

Gene:NFE2L2
Variant:p.H245N

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
2 papers
NM_006164.5
p.H245N
c.733C>A
Surrounding Variants
1 paper
NM_006164.5
p.H245Y
c.733C>T
1 paper
NM_006164.5
p.H245ins2
c.734_735ins6
1 paper
NM_006164.5
p.P244Q
c.731C>A
1 paper
NM_006164.5
p.F246L
c.736T>C
1 paper
NM_006164.5
p.F246S
c.737T>C
1 paper
NM_006164.5
p.F246L
c.738T>G
1 paper
NM_006164.5
p.F246L
c.738T>A
1 paper
NM_006164.5
p.S243C
c.727A>T
1 paper
NM_006164.5
p.C242fs
c.724_725fs
1 paper
NM_001145413.3
p.C219C
c.657T>C
1 paper
NM_006164.5
p.C242Y
c.725G>A
1 paper
NM_006164.5
p.F246_L247delFs
c.736_739del4
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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."