Varaico: Literature-Extracted Genetic Variants

Gene:MAFA
Variant:p.H199D

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.H199D
c.595C>G
Surrounding Variants
1 paper
NM_201589.4
p.A198_H199del2
c.592_596del6
1 paper
NM_201589.4
p.H194H
c.582T>C
1 paper
NM_201589.4
p.H193L
c.578A>T
2 papers
NM_201589.4
p.H208delFs
c.623delT
15 papers
NM_201589.4
p.H207_H208del1
c.621_623delTGG
3 papers
NM_201589.4
p.H206_H208del0
c.618_623del6
1 paper
NM_201589.4
p.H205_H208del0
c.615_623del9
10 papers
NM_201589.4
p.H208del1
c.622_623delATG
5 papers
NM_201589.4
p.H207_H208del2
c.619_623del6
1 paper
NM_201589.4
p.H206_H208del3
c.616_623del9
1 paper
NM_201589.4
p.G174D
c.521G>A
1 paper
NM_201589.4
p.V221_L223del3
c.661_668del9
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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."