Varaico: Literature-Extracted Genetic Variants

Gene:NFE2L2
Variant:p.R58*

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.R58*
c.172A>T
Surrounding Variants
1 paper
NM_006164.5
p.E57D
c.171A>T
1 paper
NM_006164.5
p.R58S
c.174A>T
1 paper
NM_006164.5
p.R58fs
c.172_173fs
1 paper
NM_006164.5
p.E57K
c.169G>A
1 paper
NM_001145412.3
p.Q43*
c.127C>T
1 paper
NM_006164.5
p.K56_R58del3
c.166_173del9
1 paper
NM_006164.5
p.K56N
c.168G>T
1 paper
NM_006164.5
p.K56N
c.168G>C
1 paper
NM_006164.5
p.E49_L54del0
c.145_162del18
1 paper
NM_006164.5
p.E49_K56del0
c.146_166del21
1 paper
NM_006164.5
p.Q59R
c.176A>G
3 papers
NM_006164.5
p.K56R
c.167A>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."