Varaico: Literature-Extracted Genetic Variants

Gene:NFE2L2
Variant:p.F254L

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_006164.5
p.F254L
c.762C>G
Surrounding Variants
1 paper
NM_006164.5
p.F254fs
c.760_761fs
1 paper
NM_006164.5
p.F254L
c.762C>A
1 paper
NM_006164.5
p.S253_F254insFs
c.759_760insC
1 paper
NM_006164.5
p.F254L
c.760T>C
1 paper
NM_006164.5
p.S256N
c.767G>A
1 paper
NM_006164.5
p.D252N
c.754G>A
1 paper
NM_006164.5
p.L258F
c.772C>T
1 paper
NM_006164.5
p.E251Q
c.751G>C
1 paper
NM_006164.5
p.F250L
c.750T>G
1 paper
NM_006164.5
p.F250L
c.748T>C
1 paper
NM_006164.5
p.T260fs
c.778_779fs
1 paper
NM_006164.5
p.T260R
c.779C>G
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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."