Varaico: Literature-Extracted Genetic Variants

Gene:MAFA
Variant:p.T57M

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.T57M
c.170C>T
Surrounding Variants
3 papers
NM_201589.4
p.T57R
c.170C>G
2 papers
NM_201589.4
p.T57A
c.169A>G
1 paper
NM_201589.4
p.P58L
c.173C>T
2 papers
NM_201589.4
p.P54L
c.161C>T
1 paper
NM_201589.4
p.P54A
c.160C>G
1 paper
NM_201589.4
p.C59_S61delFs
c.175_181del7
1 paper
NM_201589.4
p.P63L
c.188C>T
1 paper
NM_201589.4
p.P63R
c.188C>G
19 papers
NM_201589.4
p.S64F
c.191C>T
1 paper
NM_201589.4
p.S64S
c.192C>G
1 paper
NM_201589.4
p.S65A
c.193T>G
1 paper
NM_201589.4
p.P66L
c.197C>T
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