Varaico: Literature-Extracted Genetic Variants

Gene:NFE2L2
Variant:p.E45*

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.E45*
c.133G>T
Surrounding Variants
2 papers
NM_001145412.3
p.E29Q
c.85G>C
1 paper
NM_006164.5
p.E45fs
c.133_134fs
1 paper
NM_006164.5
p.R42_K44del0
c.126_131del6
1 paper
NM_006164.5
p.Q41_K44del0
c.121_132del12
2 papers
NM_001145412.3
p.E29G
c.86A>G
1 paper
NM_006164.5
p.K44delins
c.130_131delinsAA
1 paper
NM_006164.5
p.R42_E45del0
c.126_134del9
1 paper
NM_006164.5
p.E35_E45del0
c.105_134del30
3 papers
NM_006164.5
p.K44I
c.131A>T
1 paper
NM_006164.5
p.K44delins
c.130_131delinsTT
1 paper
NM_006164.5
p.E45delFs
c.134_135delCT
1 paper
NM_006164.5
p.R42_E45del0
c.124_135del12
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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."