Varaico: Literature-Extracted Genetic Variants

Gene:CBFB
Variant:p.R83delFs

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.R83delFs
c.247delC
Surrounding Variants
1 paper
NM_022845.3
p.S82fs
c.244_245fs
7 papers
NM_022845.3
p.R83*
c.247C>T
1 paper
NM_022845.3
p.R83L
c.248G>T
2 papers
NM_022845.3
p.P81fs
c.241_242fs
1 paper
NM_022845.3
p.E84K
c.250G>A
1 paper
NM_022845.3
p.E84fs
c.250_251fs
1 paper
NM_022845.3
p.T80fs
c.238_239fs
1 paper
NM_022845.3
p.T80_P81insA
c.238_242ins3
2 papers
NM_022845.3
p.Y85fs
c.253_254fs
1 paper
NM_022845.3
p.Y85_E89delFs
c.255_267del13
1 paper
NM_022845.3
p.Q79delFs
c.236delA
2 papers
NM_022845.3
p.Y85*
c.255T>A
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