Varaico: Literature-Extracted Genetic Variants

Gene:CBFB
Variant:p.R78Q

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.R78Q
c.233G>A
Surrounding Variants
4 papers
NM_022845.3
p.R78*
c.232C>T
1 paper
NM_022845.3
p.Q79delFs
c.236delA
1 paper
NM_022845.3
p.Q77R
c.230A>G
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.T80fs
c.238_239fs
1 paper
NM_022845.3
p.T80_P81insA
c.238_242ins3
1 paper
NM_022845.3
p.E76D
c.228A>T
2 papers
NM_022845.3
p.P81fs
c.241_242fs
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.S82fs
c.244_245fs
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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."