Varaico: Literature-Extracted Genetic Variants

Gene:NFE2L2
Variant:p.L207L

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.L207L
c.621G>A
Surrounding Variants
1 paper
NM_006164.5
p.L207P
c.620T>C
1 paper
NM_006164.5
p.L207Q
c.620T>A
1 paper
NM_006164.5
p.V208I
c.622G>A
1 paper
NM_006164.5
p.L207M
c.619C>A
1 paper
NM_006164.5
p.E209K
c.625G>A
3 papers
NM_001145412.3
p.K190E
c.568A>G
NM_006164.5
p.K206E
c.616A>G
1 paper
NM_006164.5
p.K206Q
c.616A>C
1 paper
NM_006164.5
p.D205G
c.614A>G
1 paper
NM_006164.5
p.D205Y
c.613G>T
1 paper
NM_006164.5
p.D205H
c.613G>C
1 paper
NM_006164.5
p.T210fs
c.628_629fs
1 paper
NM_001145412.3
p.T195S
c.583A>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."