Varaico: Literature-Extracted Genetic Variants

Gene:NFE2L1
Variant:p.R684H

NFE2L1

93 papers

RefSeq Summary

This gene encodes a protein that is involved in globin gene expression in erythrocytes. Confusion has occurred in bibliographic databases due to the shared symbol of NRF1 for this gene, NFE2L1, and fo...

Pfam Domains

bZIP_Mafaa 625–718UCSCbZIP Maf transcription factor

Gene Aliases

HGNC Name

NFE2 like bZIP transcription factor 1

HGNC Previous Symbol

TCF11

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_003204.3
p.R684H
c.2051G>A
Surrounding Variants
1 paper
NM_003204.3
p.D685H
c.2053G>C
1 paper
NM_003204.3
p.L680_N681del2
c.2038_2042del6
1 paper
NM_003204.3
p.R691C
c.2071C>T
1 paper
NM_003204.3
p.R674C
c.2020C>T
1 paper
NM_003204.3
p.R698Q
c.2093G>A
1 paper
NM_003204.3
p.R661Q
c.1982G>A
1 paper
NM_003204.3
p.Y742H
c.2224T>C
1 paper
NM_003204.3
p.A743S
c.2227G>T
1 paper
NM_003204.3
p.S747R
c.2239A>C
1 paper
NM_003204.3
p.S747R
c.2241T>A
1 paper
NM_003204.3
p.S747R
c.2241T>G
2 papers
NM_003204.3
p.R619*
c.1855C>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."