Varaico: Literature-Extracted Genetic Variants

Gene:NFE2L2
Variant:p.H465R

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.H465R
c.1394A>G
Surrounding Variants
1 paper
NM_001145412.3
p.H449Y
c.1345C>T
2 papers
NM_006164.5
p.P467L
c.1400C>T
NM_001145412.3
p.P451L
c.1352C>T
1 paper
NM_006164.5
p.P469S
c.1405C>T
3 papers
NM_006164.5
p.R460S
c.1380G>T
3 papers
NM_006164.5
p.R460S
c.1380G>C
1 paper
NM_001145413.3
p.R437W
c.1309A>T
1 paper
NM_006164.5
p.R460G
c.1378A>G
1 paper
NM_006164.5
p.E471K
c.1411G>A
1 paper
NM_006164.5
p.E471A
c.1412A>C
1 paper
NM_006164.5
p.K472E
c.1414A>G
1 paper
NM_006164.5
p.D457A
c.1370A>C
1 paper
NM_006164.5
p.I474S
c.1421T>G
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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."