Varaico: Literature-Extracted Genetic Variants

Gene:CBFB
Variant:p.A59S

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.A59S
c.175G>T
Surrounding Variants
1 paper
NM_022845.3
p.A59P
c.175G>C
1 paper
NM_022845.3
p.A59A
c.177C>T
1 paper
NM_022845.3
p.T60I
c.179C>T
1 paper
NM_022845.3
p.G61*
c.181G>T
1 paper
NM_022845.3
p.F57I
c.169T>A
1 paper
NM_022845.3
p.F57fs
c.169_170fs
1 paper
NM_022845.3
p.F57_T60delFs
c.170_180del11
3 papers
NM_022845.3
p.G61A
c.182G>C
1 paper
NM_022845.3
p.T62del1
c.184_185delACC
1 paper
NM_022845.3
p.I55_A56Splc
c.166-2A>G
1 paper
NM_022845.3
p.N63S
c.188A>G
1 paper
NM_022845.3
p.N63K
c.189T>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."