Varaico: Literature-Extracted Genetic Variants

Gene:NFE2L2
Variant:p.K518Q

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.K518Q
c.1552A>C
Surrounding Variants
1 paper
NM_006164.5
p.K518R
c.1553A>G
3 papers
NM_006164.5
p.R517K
c.1550G>A
1 paper
NM_006164.5
p.K516delFs
c.1546delT
1 paper
NM_006164.5
p.K518delFs
c.1553_1554delTT
1 paper
NM_006164.5
p.R517fs
c.1549_1550fs
1 paper
NM_006164.5
p.R515K
c.1544G>A
1 paper
NM_006164.5
p.L519_E520delFs
c.1557_1560del4
1 paper
NM_006164.5
p.N513I
c.1538A>T
1 paper
NM_006164.5
p.Q512H
c.1536G>T
1 paper
NM_006164.5
p.Q512H
c.1536G>C
2 papers
NM_006164.5
p.E524Q
c.1570G>C
1 paper
NM_006164.5
p.Q512*
c.1534C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."