Varaico: Literature-Extracted Genetic Variants

Gene:NFE2L2
Variant:p.K52N

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.K52N
c.156A>T
Surrounding Variants
1 paper
NM_006164.5
p.K52N
c.156A>C
1 paper
NM_001145412.3
p.Q35_K36del1
c.105_107delTTC
1 paper
NM_006164.5
p.K52R
c.155A>G
1 paper
NM_006164.5
p.K53Q
c.157A>C
1 paper
NM_001145412.3
p.E33_K36ins1
c.97_108dup12
1 paper
NM_006164.5
p.F39_K52del0
c.116_154del39
1 paper
NM_006164.5
p.R42_K52del0
c.124_156del33
1 paper
NM_006164.5
p.K53R
c.158A>G
1 paper
NM_006164.5
p.K52Q
c.154A>C
1 paper
NM_006164.5
p.Q41_Q51del0
c.123_152del30
1 paper
NM_006164.5
p.Q51H
c.153G>T
1 paper
NM_006164.5
p.Q51H
c.153G>C
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