Varaico: Literature-Extracted Genetic Variants

Gene:NFE2L3
Variant:p.C595F

NFE2L3

89 papers

RefSeq Summary

This gene encodes a member of the cap 'n' collar basic-region leucine zipper family of transcription factors. The encoded protein heterodimerizes with small musculoaponeurotic fibrosarcoma factors to ...

Pfam Domains

bZIP_Mafaa 549–642UCSCbZIP Maf transcription factor

Gene Aliases

HGNC Name

NFE2 like bZIP transcription factor 3

HGNC Alias Symbol

Nrf3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004289.7
p.C595F
c.1784G>T
Surrounding Variants
1 paper
NM_004289.7
p.C595Y
c.1784G>A
2 papers
NM_004289.7
p.R596C
c.1786C>T
1 paper
NM_004289.7
p.R598C
c.1792C>T
1 paper
NM_004289.7
p.V590A
c.1769T>C
2 papers
NM_004289.7
p.R584Q
c.1751G>A
1 paper
NM_004289.7
p.D609_V610delFs
c.1826_1829del4
1 paper
NM_004289.7
p.C611fs
c.1831_1832fs
1 paper
NM_004289.7
p.L578F
c.1732C>T
1 paper
NM_004289.7
p.S577L
c.1730C>T
1 paper
NM_004289.7
p.K617T
c.1850A>C
1 paper
NM_004289.7
p.E618K
c.1852G>A
1 paper
NM_004289.7
p.E618D
c.1854A>C
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