Varaico: Literature-Extracted Genetic Variants

Gene:NFE2
Variant:p.H191D

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.H191D
c.571C>G
Surrounding Variants
1 paper
NM_001136023.3
p.H191R
c.572A>G
1 paper
NM_001136023.3
p.N193fs
c.577_578fs
1 paper
NM_001136023.3
p.S188C
c.563C>G
1 paper
NM_001136023.3
p.N193_Y194delFs
c.578_581del4
1 paper
NM_001136023.3
p.P186L
c.557C>T
1 paper
NM_001136023.3
p.M185V
c.553A>G
1 paper
NM_001136023.3
p.E200K
c.598G>A
1 paper
NM_001136023.3
p.P181P
c.543C>T
1 paper
NM_001136023.3
p.A204fs
c.610_611fs
1 paper
NM_001136023.3
p.L205L
c.613T>C
1 paper
NM_001136023.3
p.V173A
c.518T>C
1 paper
NM_001136023.3
p.S209*
c.626C>G
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