Varaico: Literature-Extracted Genetic Variants

Gene:CBFB
Variant:p.E126V

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.E126V
c.377A>T
Surrounding Variants
1 paper
NM_022845.3
p.E126*
c.376G>T
1 paper
NM_022845.3
p.L125P
c.374T>C
1 paper
NM_022845.3
p.F127S
c.380T>C
1 paper
NM_022845.3
p.F127C
c.380T>G
1 paper
NM_022845.3
p.L125V
c.373C>G
1 paper
NM_022845.3
p.E130*
c.388G>T
1 paper
NM_022845.3
p.R131G
c.391C>G
1 paper
NM_022845.3
p.R131*
c.391C>T
1 paper
NM_022845.3
p.G121D
c.362G>A
2 papers
NM_022845.3
p.G121S
c.361G>A
1 paper
NM_022845.3
p.A132V
c.395C>T
1 paper
NM_022845.3
p.D120insFs
c.358_359insTA
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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."