Varaico: Literature-Extracted Genetic Variants

Gene:CBFB
Variant:p.F32V

CBFB

213 papers

RefSeq Summary

The protein encoded by this gene is the beta subunit of a heterodimeric core-binding transcription factor belonging to the PEBP2/CBF transcription factor family which master-regulates a host of genes ...

Pfam Domains

CBF_betaaa 1–168UCSCCore binding factor beta subunit

Gene Aliases

HGNC Name

core-binding factor subunit beta

HGNC Alias Symbol

PEBP2B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_022845.3
p.F32V
c.94T>G
Surrounding Variants
1 paper
NM_022845.3
p.F32C
c.95T>G
1 paper
NM_022845.3
p.R33_H37delFs
c.97_110del14
1 paper
NM_022845.3
p.G31insFs
c.91_92insC
1 paper
NM_022845.3
p.R33M
c.98G>T
1 paper
NM_022845.3
p.D34fs
c.100_101fs
1 paper
NM_022845.3
p.Y29C
c.86A>G
1 paper
NM_022845.3
p.R35G
c.103C>G
1 paper
NM_022845.3
p.Y29H
c.85T>C
2 papers
NM_022845.3
p.R35P
c.104G>C
1 paper
NM_022845.3
p.K28M
c.83A>T
2 papers
NM_022845.3
p.R35R
c.105G>A
1 paper
NM_022845.3
p.K28E
c.82A>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."