Varaico: Literature-Extracted Genetic Variants

Gene:MAFA
Variant:p.E4G

MAFA

109 papers

RefSeq Summary

MAFA is a transcription factor that binds RIPE3b, a conserved enhancer element that regulates pancreatic beta cell-specific expression of the insulin gene (INS; MIM 176730) (Olbrot et al., 2002 [PubMe...

Pfam Domains

Maf_Naa 111–144UCSCMaf N-terminal region
bZIP_Mafaa 227–318UCSCbZIP Maf transcription factor

Gene Aliases

HGNC Name

MAF bZIP transcription factor A

HGNC Alias Symbols

RIPE3b1; hMafA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_201589.4
p.E4G
c.11A>G
Surrounding Variants
1 paper
NM_201589.4
p.A3S
c.7G>T
1 paper
NM_201589.4
p.M1I
c.3G>T
1 paper
NM_201589.4
p.M1I
c.3G>A
3 papers
NM_201589.4
p.L11P
c.32T>C
1 paper
NM_201589.4
p.P15A
c.43C>G
1 paper
NM_201589.4
p.Y20N
c.58T>A
1 paper
NM_201589.4
p.Y20C
c.59A>G
1 paper
NM_201589.4
p.M27_F29del0
c.81_86del6
1 paper
NM_201589.4
p.K32R
c.95A>G
1 paper
NM_201589.4
p.K32K
c.96G>A
1 paper
NM_201589.4
p.C42Y
c.125G>A
1 paper
NM_201589.4
p.P47fs
c.139_140fs
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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."