Varaico: Literature-Extracted Genetic Variants

Gene:NFE2L2
Variant:p.R502C

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.R502C
c.1504C>T
Surrounding Variants
1 paper
NM_006164.5
p.R502H
c.1505G>A
1 paper
NM_006164.5
p.R503M
c.1508G>T
1 paper
NM_006164.5
p.R503S
c.1509G>T
1 paper
NM_006164.5
p.R503S
c.1509G>C
1 paper
NM_006164.5
p.D500A
c.1499A>C
1 paper
NM_006164.5
p.R504M
c.1511G>T
1 paper
NM_006164.5
p.R504S
c.1512G>T
1 paper
NM_006164.5
p.R499L
c.1496G>T
1 paper
NM_006164.5
p.R504S
c.1512G>C
8 papers
NM_006164.5
p.R499W
c.1495C>T
1 paper
NM_006164.5
p.I498T
c.1493T>C
1 paper
NM_006164.5
p.K506E
c.1516A>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."