Varaico: Literature-Extracted Genetic Variants

Gene:CBFB
Variant:p.M101V

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
2 papers
NM_022845.3
p.M101V
c.301A>G
Surrounding Variants
1 paper
NM_022845.3
p.P100L
c.299C>T
2 papers
NM_022845.3
p.P100A
c.298C>G
2 papers
NM_022845.3
p.P100fs
c.298_299fs
1 paper
NM_022845.3
p.I102N
c.305T>A
1 paper
NM_022845.3
p.I102M
c.306T>G
2 papers
NM_022845.3
p.A99insFs
c.295_296dupGC
5 papers
NM_022845.3
p.N104S
c.311A>G
1 paper
NM_022845.3
p.G105*
c.313G>T
2 papers
NM_022845.3
p.G105A
c.314G>C
1 paper
NM_022845.3
p.V106L
c.316G>C
1 paper
NM_022845.3
p.Y96fs
c.286_287fs
3 papers
NM_022845.3
p.C107Y
c.320G>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."