Varaico: Literature-Extracted Genetic Variants

Gene:NFE2
Variant:p.L253Q

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.L253Q
c.758T>A
Surrounding Variants
1 paper
NM_001136023.3
p.L253fs
c.757_758fs
1 paper
NM_001136023.3
p.L253delFs
c.757_758delAG
1 paper
NM_001136023.3
p.F250delFs
c.750delA
1 paper
NM_001136023.3
p.F250fs
c.748_749fs
1 paper
NM_001136023.3
p.P258S
c.772C>T
1 paper
NM_001136023.3
p.P246ins6
c.737_738ins18
1 paper
NM_001136023.3
p.P246L
c.737C>T
1 paper
NM_001136023.3
p.T260_E261insFs
c.780_781insA
3 papers
NM_001136023.3
p.E261fs
c.781_782fs
1 paper
NM_001136023.3
p.L245V
c.733T>G
3 papers
NM_001136023.3
p.E261fs
c.781_782fs
1 paper
NM_001136023.3
p.N244_L245insFs
c.732_733insG
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