Varaico: Literature-Extracted Genetic Variants

Gene:NFE2
Variant:p.L205L

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.L205L
c.613T>C
Surrounding Variants
1 paper
NM_001136023.3
p.A204fs
c.610_611fs
1 paper
NM_001136023.3
p.S209*
c.626C>G
1 paper
NM_001136023.3
p.S209*
c.626C>A
1 paper
NM_001136023.3
p.E200K
c.598G>A
1 paper
NM_001136023.3
p.P211S
c.631C>T
1 paper
NM_001136023.3
p.P211_V212insFs
c.633_634insA
1 paper
NM_001136023.3
p.R213G
c.637C>G
1 paper
NM_001136023.3
p.A214G
c.641C>G
1 paper
NM_001136023.3
p.N193_Y194delFs
c.578_581del4
1 paper
NM_001136023.3
p.P216S
c.646C>T
1 paper
NM_001136023.3
p.N193fs
c.577_578fs
2 papers
NM_001136023.3
p.T217N
c.650C>A
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