Varaico: Literature-Extracted Genetic Variants

Gene:MAFB
Variant:p.R38_R41del4

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
1 paper
NM_005461.5
p.R38_R41del4
c.112_122del12
Surrounding Variants
1 paper
NM_005461.5
p.R38_R41del0
c.114_122del9
1 paper
NM_005461.5
p.E40D
c.120G>T
1 paper
NM_005461.5
p.E40D
c.120G>C
1 paper
NM_005461.5
p.C46*
c.138C>A
1 paper
NM_005461.5
p.L36fs
c.106_107fs
1 paper
NM_005461.5
p.Q50Q
c.150G>A
1 paper
NM_005461.5
p.A52V
c.155C>T
16 papers
NM_005461.5
p.S54L
c.161C>T
9 papers
NM_005461.5
p.S54W
c.161C>G
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.S57F
c.170C>T
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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."