Varaico: Literature-Extracted Genetic Variants

Gene:MAFG

MAFG

29 papers

RefSeq Summary

Globin gene expression is regulated through nuclear factor erythroid-2 (NFE2) elements located in enhancer-like locus control regions positioned many kb upstream of alpha- and beta-gene clusters (summ...

Pfam Domains

bZIP_Mafaa 24–115UCSCbZIP Maf transcription factor

Gene Aliases

HGNC Name

MAF bZIP transcription factor G

HGNC Alias Symbols

MGC13090; MGC20149

Papers
RefSeq ID
Protein change
DNA change
1–12 of 19 variants
2 papers
NM_002359.4
p.G131A
c.392G>C
2 papers
NM_002359.4
p.R161Q
c.482G>A
1 paper
NM_002359.4
p.T3A
c.7A>G
1 paper
NM_002359.4
p.L11S
c.32T>C
1 paper
NM_002359.4
p.N20N
c.60T>C
1 paper
NM_002359.4
p.S45P
c.133T>C
1 paper
NM_002359.4
p.R62H
c.185G>A
1 paper
NM_002359.4
p.C68S
c.202T>A
1 paper
NM_002359.4
p.C68S
c.203G>C
1 paper
NM_002359.4
p.V70M
c.208G>A
1 paper
NM_002359.4
p.K81N
c.243G>T
1 paper
NM_002359.4
p.K81N
c.243G>C
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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."