Varaico: Literature-Extracted Genetic Variants

Gene:CBFB

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
1–12 of 261 variants
7 papers
NM_022845.3
p.R83*
c.247C>T
6 papers
NM_022845.3
p.P70fs
c.208_209fs
6 papers
NM_022845.3
p.W73*
c.218G>A
6 papers
NM_022845.3
p.W73*
c.219G>A
5 papers
NM_022845.3
p.R9K
c.26G>A
5 papers
NM_022845.3
p.F69insFs
c.207dupT
5 papers
NM_022845.3
p.N104S
c.311A>G
4 papers
NM_022845.3
p.Q67fs
c.199_200fs
4 papers
NM_022845.3
p.R78*
c.232C>T
3 papers
NM_022845.3
p.M1insFs
c.2_3insT
3 papers
NM_022845.3
p.E26_I27Splc
c.78+1G>A
3 papers
NM_022845.3
p.I55_A56Splc
c.165+1G>A
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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."