Varaico: Literature-Extracted Genetic Variants

Gene:CBFB
Variant:p.I55_A56Splc

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
3 papers
NM_022845.3
p.I55_A56Splc
c.165+1G>A
Surrounding Variants
1 paper
NM_022845.3
p.I55_A56Splc
c.165+1G>C
2 papers
NM_022845.3
p.I55_A56Splc
c.165+1G>T
1 paper
NM_022845.3
p.I55_A56Splc
c.165+2T>A
1 paper
NM_022845.3
p.I55_A56Splc
c.165+2T>C
1 paper
NM_022845.3
p.I55fs
c.163_164fs
1 paper
NM_022845.3
p.I55F
c.163A>T
2 papers
NM_022845.3
p.E54*
c.160G>T
1 paper
NM_022845.3
p.S53*
c.158C>A
1 paper
NM_022845.3
p.S53L
c.158C>T
1 paper
NM_022845.3
p.S53P
c.157T>C
1 paper
NM_022845.3
p.R52H
c.155G>A
1 paper
NM_022845.3
p.R52P
c.155G>C
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