Varaico: Literature-Extracted Genetic Variants

Gene:MAFA
Variant:p.S270C

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.S270C
c.809C>G
Surrounding Variants
1 paper
NM_201589.4
p.C271S
c.811T>A
1 paper
NM_201589.4
p.C271S
c.812G>C
1 paper
NM_201589.4
p.R272S
c.814C>A
2 papers
NM_201589.4
p.Y267F
c.800A>T
1 paper
NM_201589.4
p.Y267S
c.800A>C
1 paper
NM_201589.4
p.Q257L
c.770A>T
1 paper
NM_201589.4
p.R242_K256del15
c.724_767del45
1 paper
NM_201589.4
p.C287S
c.859T>A
1 paper
NM_201589.4
p.C287S
c.860G>C
2 papers
NM_201589.4
p.K297R
c.890A>G
1 paper
NM_201589.4
p.E306K
c.916G>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."