Varaico: Literature-Extracted Genetic Variants

Gene:NFE2L2
Variant:p.S433fs

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.S433fs
c.1297_1298fs
Surrounding Variants
4 papers
NM_006164.5
p.S433N
c.1298G>A
1 paper
NM_006164.5
p.V432insFs
c.1295dupT
1 paper
NM_006164.5
p.S433S
c.1299T>C
1 paper
NM_006164.5
p.V432L
c.1294G>T
1 paper
NM_006164.5
p.V432L
c.1294G>C
1 paper
NM_006164.5
p.L430delFs
c.1289_1290delCA
1 paper
NM_006164.5
p.L430L
c.1288T>C
2 papers
NM_006164.5
p.H436Y
c.1306C>T
1 paper
NM_006164.5
p.E429K
c.1285G>A
1 paper
NM_006164.5
p.R437W
c.1309C>T
1 paper
NM_006164.5
p.R437Q
c.1310G>A
1 paper
NM_006164.5
p.K428N
c.1284A>T
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