Varaico: Literature-Extracted Genetic Variants

Gene:MAFB
Variant:p.H227P

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.H227P
c.680A>C
Surrounding Variants
4 papers
NM_005461.5
p.E223K
c.667G>A
1 paper
NM_005461.5
p.E235*
c.703G>T
1 paper
NM_005461.5
p.E235K
c.703G>A
1 paper
NM_005461.5
p.Q215delFs
c.644delT
1 paper
NM_005461.5
p.L239V
c.715C>G
4 papers
NM_005461.5
p.L239P
c.716T>C
2 papers
NM_005461.5
p.Q215fs
c.643_644fs
1 paper
NM_005461.5
p.N248S
c.743A>G
1 paper
NM_005461.5
p.R249W
c.745C>T
1 paper
NM_005461.5
p.N204S
c.611A>G
2 papers
NM_005461.5
p.Y251F
c.752A>T
1 paper
NM_005461.5
p.S254P
c.760T>C
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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."