Varaico: Literature-Extracted Genetic Variants

Gene:CBFB
Variant:p.R9K

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
5 papers
NM_022845.3
p.R9K
c.26G>A
Surrounding Variants
1 paper
NM_022845.3
p.R9G
c.25A>G
1 paper
NM_022845.3
p.R9*
c.25A>T
1 paper
NM_022845.3
p.Q8H
c.24G>C
1 paper
NM_022845.3
p.Q8H
c.24G>T
1 paper
NM_022845.3
p.Q8R
c.23A>G
1 paper
NM_022845.3
p.Q8fs
c.22_23fs
1 paper
NM_022845.3
p.Q8*
c.22C>T
1 paper
NM_022845.3
p.P6T
c.16C>A
1 paper
NM_022845.3
p.V5L
c.13G>C
1 paper
NM_022845.3
p.N14D
c.40A>G
1 paper
NM_022845.3
p.V4G
c.11T>G
1 paper
NM_022845.3
p.E16del1
c.46_47delGAG
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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."