Varaico: Literature-Extracted Genetic Variants

Gene:CBFB
Variant:p.W73*

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
6 papers
NM_022845.3
p.W73*
c.219G>A
Surrounding Variants
1 paper
NM_022845.3
p.Q74_R78del5
c.220_233del15
1 paper
NM_022845.3
p.Q74K
c.220C>A
2 papers
NM_022845.3
p.Q74*
c.220C>T
6 papers
NM_022845.3
p.W73*
c.218G>A
1 paper
NM_022845.3
p.G75insFs
c.223_224insGA
1 paper
NM_022845.3
p.G75*
c.223G>T
1 paper
NM_022845.3
p.E76D
c.228A>T
1 paper
NM_022845.3
p.Q77fs
c.229_230fs
1 paper
NM_022845.3
p.Q77*
c.229C>T
1 paper
NM_022845.3
p.Q77R
c.230A>G
6 papers
NM_022845.3
p.P70fs
c.208_209fs
1 paper
NM_022845.3
p.P70S
c.208C>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."