Varaico: Literature-Extracted Genetic Variants

Gene:NFE2L2
Variant:p.E47A

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.E47A
c.140A>C
Surrounding Variants
1 paper
NM_006164.5
p.S40_E47delins
c.120_140delinsAAC
1 paper
NM_006164.5
p.R43_Y46del0
c.127_138del12
1 paper
NM_006164.5
p.K44_E47del0
c.131_139del9
1 paper
NM_006164.5
p.R42_E47del0
c.126_140del15
1 paper
NM_006164.5
p.R34_E47del0
c.102_140del39
1 paper
NM_006164.5
p.R42_Y46del0
c.126_137del12
1 paper
NM_006164.5
p.E35_Y46del0
c.105_137del33
1 paper
NM_006164.5
p.E45_Y46del0
c.133_138del6
2 papers
NM_001145412.3
p.L32R
c.95T>G
2 papers
NM_001145412.3
p.L32Q
c.95T>A
NM_006164.5
p.L48Q
c.143T>A
1 paper
NM_006164.5
p.F39_E45del0
c.115_135del21
1 paper
NM_006164.5
p.F37_Y46del0
c.110_136del27
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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."