Varaico: Literature-Extracted Genetic Variants

Gene:NFE2
Variant:p.S47*

NFE2

260 papers

Pfam Domains

bZIP_Mafaa 237–330UCSCbZIP Maf transcription factor

Gene Aliases

HGNC Name

nuclear factor, erythroid 2

HGNC Alias Symbol

NF-E2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001136023.3
p.S47*
c.140C>G
Surrounding Variants
1 paper
NM_001136023.3
p.S47*
c.140C>A
1 paper
NM_001136023.3
p.E45*
c.133G>T
1 paper
NM_001136023.3
p.P43fs
c.127_128fs
1 paper
NM_001136023.3
p.A52V
c.155C>T
1 paper
NM_001136023.3
p.A42V
c.125C>T
1 paper
NM_001136023.3
p.A42P
c.124G>C
1 paper
NM_001136023.3
p.P53L
c.158C>T
2 papers
NM_001136023.3
p.P53P
c.159A>T
1 paper
NM_001136023.3
p.L40L
c.118C>T
1 paper
NM_001136023.3
p.G39V
c.116G>T
1 paper
NM_001136023.3
p.L57fs
c.169_170fs
1 paper
NM_001136023.3
p.L57delFs
c.170_171delAA
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