Varaico: Literature-Extracted Genetic Variants

Gene:MAFB
Variant:p.H131Q

MAFB

158 papers

RefSeq Summary

The protein encoded by this gene is a basic leucine zipper (bZIP) transcription factor that plays an important role in the regulation of lineage-specific hematopoiesis. The encoded nuclear protein rep...

Pfam Domains

Maf_Naa 80–113UCSCMaf N-terminal region
bZIP_Mafaa 211–302UCSCbZIP Maf transcription factor

Gene Aliases

HGNC Name

MAF bZIP transcription factor B

HGNC Previous Symbol

KRML

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
11 papers
NM_005461.5
p.H131Q
c.393C>G
Surrounding Variants
1 paper
NM_005461.5
p.H131H
c.393C>T
11 papers
NM_005461.5
p.H131Q
c.393C>A
1 paper
NM_005461.5
p.H133N
c.397C>A
1 paper
NM_005461.5
p.A130P
c.388G>C
1 paper
NM_005461.5
p.S114_Q122del9
c.340_365del27
1 paper
NM_005461.5
p.P118L
c.353C>T
2 papers
NM_005461.5
p.G147fs
c.439_440fs
1 paper
NM_005461.5
p.G147delFs
c.440delC
1 paper
NM_005461.5
p.G149V
c.446G>T
1 paper
NM_005461.5
p.V150M
c.448G>A
1 paper
NM_005461.5
p.G147_D153insFs
c.439_457dup19
1 paper
NM_005461.5
p.H160R
c.479A>G
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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."