Varaico: Literature-Extracted Genetic Variants

Gene:NFE2
Variant:p.L301P

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
1 paper
NM_001136023.3
p.L301P
c.902T>C
Surrounding Variants
1 paper
NM_001136023.3
p.R300del1
c.898_899delCCG
1 paper
NM_001136023.3
p.E297_R300del4
c.889_899del12
1 paper
NM_001136023.3
p.T302S
c.904A>T
1 paper
NM_001136023.3
p.T302S
c.905C>G
1 paper
NM_001136023.3
p.E297fs
c.889_890fs
1 paper
NM_001136023.3
p.R305W
c.913C>T
1 paper
NM_001136023.3
p.E306E
c.918G>A
1 paper
NM_001136023.3
p.Q293_L294Fs
c.879_880delinsAFs
1 paper
NM_001136023.3
p.L309I
c.925C>A
1 paper
NM_001136023.3
p.L309R
c.926T>G
1 paper
NM_001136023.3
p.E314*
c.940G>T
1 paper
NM_001136023.3
p.A315T
c.943G>A
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