Varaico: Literature-Extracted Genetic Variants

Gene:NFE2L2
Variant:p.K533Q

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
3 papers
NM_006164.5
p.K533Q
c.1597A>C
Surrounding Variants
2 papers
NM_006164.5
p.K533R
c.1598A>G
2 papers
NM_006164.5
p.D534H
c.1600G>C
1 paper
NM_006164.5
p.H531N
c.1591C>A
1 paper
NM_006164.5
p.E535D
c.1605A>T
1 paper
NM_006164.5
p.D530G
c.1589A>G
1 paper
NM_006164.5
p.D530Y
c.1588G>T
1 paper
NM_006164.5
p.D530H
c.1588G>C
1 paper
NM_006164.5
p.E537K
c.1609G>A
1 paper
NM_006164.5
p.E537G
c.1610A>G
1 paper
NM_001145413.3
p.E503*
c.1507G>T
1 paper
NM_006164.5
p.L540F
c.1618C>T
1 paper
NM_006164.5
p.E524delFs
c.1572delT
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."