Varaico: Literature-Extracted Genetic Variants

Gene:CBFB
Variant:p.Q45H

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.Q45H
c.135G>T
Surrounding Variants
1 paper
NM_022845.3
p.Q45H
c.135G>C
1 paper
NM_022845.3
p.Q45*
c.133C>T
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.F44V
c.130T>G
1 paper
NM_022845.3
p.R43G
c.127C>G
1 paper
NM_022845.3
p.R43C
c.127C>T
1 paper
NM_022845.3
p.R49_D50insFs
c.147_148dupCG
1 paper
NM_022845.3
p.R49fs
c.145_146fs
1 paper
NM_022845.3
p.A42V
c.125C>T
2 papers
NM_022845.3
p.A42T
c.124G>A
1 paper
NM_022845.3
p.D50fs
c.148_149fs
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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."