Varaico: Literature-Extracted Genetic Variants

Gene:CBFB
Variant:p.P70fs

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.P70fs
c.208_209fs
Surrounding Variants
6 papers
NM_022845.3
p.P70fs
c.208_209fs
1 paper
NM_022845.3
p.P70S
c.208C>T
1 paper
NM_022845.3
p.F69fs
c.205_206fs
2 papers
NM_022845.3
p.F68fs
c.202_203fs
1 paper
NM_022845.3
p.Q67H
c.201G>C
5 papers
NM_022845.3
p.F69insFs
c.207dupT
1 paper
NM_022845.3
p.Q67H
c.201G>T
1 paper
NM_022845.3
p.F69delFs
c.207delT
1 paper
NM_022845.3
p.F68_A71del4
c.202_212del12
1 paper
NM_022845.3
p.Q67P
c.200A>C
4 papers
NM_022845.3
p.Q67fs
c.199_200fs
3 papers
NM_022845.3
p.Q67*
c.199C>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."