Varaico: Literature-Extracted Genetic Variants

Gene:NFE2L2
Variant:p.M403_V404del2

NFE2L2

1,072 papers

RefSeq Summary

This gene encodes a transcription factor which is a member of a small family of basic leucine zipper (bZIP) proteins. The encoded transcription factor regulates genes which contain antioxidant respons...

Pfam Domains

bZIP_Mafaa 395–488UCSCbZIP Maf transcription factor

Gene Aliases

HGNC Name

NFE2 like bZIP transcription factor 2

HGNC Alias Symbols

NRF2; NRF-2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006164.5
p.M403_V404del2
c.1207_1211del6
Surrounding Variants
1 paper
NM_006164.5
p.Q405*
c.1213C>T
1 paper
NM_001145412.3
p.Q389R
c.1166A>G
1 paper
NM_006164.5
p.M403_V404del1
c.1208_1210delCCA
1 paper
NM_006164.5
p.M403delFs
c.1209delC
1 paper
NM_006164.5
p.P406S
c.1216C>T
1 paper
NM_006164.5
p.P406insFs
c.1218dupC
1 paper
NM_006164.5
p.M403L
c.1207A>T
1 paper
NM_006164.5
p.M403L
c.1207A>C
1 paper
NM_006164.5
p.S408A
c.1222T>G
1 paper
NM_006164.5
p.G401G
c.1203G>A
1 paper
NM_006164.5
p.S408fs
c.1222_1223fs
1 paper
NM_006164.5
p.P409fs
c.1225_1226fs
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