Varaico: Literature-Extracted Genetic Variants

Gene:NFE2L2
Variant:p.E524delFs

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.E524delFs
c.1572delT
Surrounding Variants
1 paper
NM_006164.5
p.E524fs
c.1570_1571fs
1 paper
NM_006164.5
p.V523del1
c.1567_1568delTAC
1 paper
NM_001145413.3
p.E503*
c.1507G>T
2 papers
NM_006164.5
p.E524Q
c.1570G>C
1 paper
NM_006164.5
p.L519_E520delFs
c.1557_1560del4
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.D530G
c.1589A>G
1 paper
NM_006164.5
p.H531N
c.1591C>A
1 paper
NM_006164.5
p.K518delFs
c.1553_1554delTT
1 paper
NM_006164.5
p.K518R
c.1553A>G
1 paper
NM_006164.5
p.K518Q
c.1552A>C
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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."