Varaico: Literature-Extracted Genetic Variants

Gene:MAFB
Variant:p.S54W

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
9 papers
NM_005461.5
p.S54W
c.161C>G
Surrounding Variants
16 papers
NM_005461.5
p.S54L
c.161C>T
1 paper
NM_005461.5
p.S56P
c.166T>C
12 papers
NM_005461.5
p.S56F
c.167C>T
1 paper
NM_005461.5
p.A52V
c.155C>T
1 paper
NM_005461.5
p.S57F
c.170C>T
1 paper
NM_005461.5
p.Q50Q
c.150G>A
4 papers
NM_005461.5
p.T58A
c.172A>G
2 papers
NM_005461.5
p.T58I
c.173C>T
4 papers
NM_005461.5
p.T58R
c.173C>G
16 papers
NM_005461.5
p.P59L
c.176C>T
1 paper
NM_005461.5
p.P59R
c.176C>G
1 paper
NM_005461.5
p.P59Q
c.176C>A
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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."