Varaico: Literature-Extracted Genetic Variants

Gene:CBFB
Variant:p.M1I

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.M1I
c.3G>C
Surrounding Variants
2 papers
NM_022845.3
p.M1I
c.3G>A
1 paper
NM_022845.3
p.M1_P2insFs
c.3_4insA
1 paper
NM_022845.3
p.M1_P2insFs
c.3_4insT
2 papers
NM_022845.3
p.M1I
c.3G>T
1 paper
NM_022845.3
p.P2T
c.4C>A
1 paper
NM_022845.3
p.P2S
c.4C>T
1 paper
NM_022845.3
p.M1T
c.2T>C
3 papers
NM_022845.3
p.M1insFs
c.2_3insT
1 paper
NM_022845.3
p.P2L
c.5C>T
1 paper
NM_022845.3
p.M1insFs
c.1_2insCA
1 paper
NM_022845.3
p.R3R
c.9C>T
2 papers
NM_022845.3
p.V4F
c.10G>T
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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."