Varaico: Literature-Extracted Genetic Variants

Gene:NFE2L2
Variant:p.Q41_L48del0

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.Q41_L48del0
c.121_144del24
Surrounding Variants
1 paper
NM_006164.5
p.E49_K50insGTA
c.145_149ins9
1 paper
NM_006164.5
p.E49K
c.145G>A
1 paper
NM_001145412.3
p.E31_L32del1
c.93_95delAGC
1 paper
NM_006164.5
p.R43_L48del0
c.129_143del15
1 paper
NM_006164.5
p.R42_L48del0
c.124_144del21
1 paper
NM_006164.5
p.L48L
c.144G>A
1 paper
NM_006164.5
p.V36_L48del0
c.107_142del36
2 papers
NM_006164.5
p.E49V
c.146A>T
1 paper
NM_006164.5
p.S40_E49del0
c.119_145del27
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.E49D
c.147A>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."