Varaico: Literature-Extracted Genetic Variants

Gene:CBFB
Variant:p.R49_D50insFs

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
1 paper
NM_022845.3
p.R49_D50insFs
c.147_148dupCG
Surrounding Variants
1 paper
NM_022845.3
p.R49fs
c.145_146fs
1 paper
NM_022845.3
p.D50fs
c.148_149fs
1 paper
NM_022845.3
p.N46K
c.138C>A
1 paper
NM_022845.3
p.N46K
c.138C>G
1 paper
NM_022845.3
p.Q45H
c.135G>C
1 paper
NM_022845.3
p.Q45H
c.135G>T
1 paper
NM_022845.3
p.R52S
c.154C>A
1 paper
NM_022845.3
p.Q45*
c.133C>T
1 paper
NM_022845.3
p.R52H
c.155G>A
1 paper
NM_022845.3
p.R52P
c.155G>C
1 paper
NM_022845.3
p.S53P
c.157T>C
1 paper
NM_022845.3
p.S53*
c.158C>A
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