Varaico: Literature-Extracted Genetic Variants

Gene:NFE2L2
Variant:p.S270L

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.S270L
c.809C>T
Surrounding Variants
6 papers
NM_006164.5
p.V268M
c.802G>A
1 paper
NM_006164.5
p.T267R
c.800C>G
2 papers
NM_006164.5
p.L266F
c.798G>T
1 paper
NM_006164.5
p.D274Y
c.820G>T
1 paper
NM_006164.5
p.L266insFs
c.797dupT
2 papers
NM_006164.5
p.L266F
c.798G>C
1 paper
NM_006164.5
p.D274fs
c.820_821fs
1 paper
NM_001145413.3
p.T253S
c.757A>T
1 paper
NM_006164.5
p.N264S
c.791A>G
1 paper
NM_006164.5
p.T276fs
c.826_827fs
1 paper
NM_006164.5
p.T276delFs
c.827_828delTG
2 papers
NM_006164.5
p.D262E
c.786C>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."