Varaico: Literature-Extracted Genetic Variants

Gene:NFE2L2
Variant:p.K64M

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.K64M
c.191A>T
Surrounding Variants
1 paper
NM_006164.5
p.K64R
c.191A>G
1 paper
NM_006164.5
p.K64T
c.191A>C
1 paper
NM_006164.5
p.L62_Q63del2
c.184_188del6
1 paper
NM_006164.5
p.E65*
c.193G>T
2 papers
NM_006164.5
p.E65K
c.193G>A
1 paper
NM_006164.5
p.Q63H
c.189A>T
1 paper
NM_006164.5
p.Q63Q
c.189A>G
1 paper
NM_006164.5
p.L62_Q63del1
c.186_188delTGG
1 paper
NM_006164.5
p.Q66*
c.196C>T
1 paper
NM_001145412.3
p.L46L
c.138C>T
1 paper
NM_006164.5
p.K56_L62ins2
c.168_185dup18
1 paper
NM_006164.5
p.L62delFs
c.185delA
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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."