Varaico: Literature-Extracted Genetic Variants

Gene:NFE2L2
Variant:p.L348L

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.L348L
c.1044A>G
Surrounding Variants
1 paper
NM_006164.5
p.T350A
c.1048A>G
1 paper
NM_006164.5
p.S347A
c.1039T>G
1 paper
NM_006164.5
p.S351T
c.1052G>C
1 paper
NM_006164.5
p.G345D
c.1034G>A
2 papers
NM_006164.5
p.G345S
c.1033G>A
1 paper
NM_006164.5
p.S344S
c.1032C>T
1 paper
NM_006164.5
p.S344A
c.1030T>G
1 paper
NM_006164.5
p.S353T
c.1058G>C
1 paper
NM_006164.5
p.D343Y
c.1027G>T
1 paper
NM_006164.5
p.S342F
c.1025C>T
1 paper
NM_006164.5
p.S356A
c.1066T>G
3 papers
NM_006164.5
p.D341V
c.1022A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."