Varaico: Literature-Extracted Genetic Variants

Gene:CBFB
Variant:p.L66F

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.L66F
c.196C>T
Surrounding Variants
2 papers
NM_022845.3
p.L66fs
c.196_197fs
1 paper
NM_022845.3
p.L66H
c.197T>A
1 paper
NM_022845.3
p.S65F
c.194C>T
4 papers
NM_022845.3
p.Q67fs
c.199_200fs
3 papers
NM_022845.3
p.Q67*
c.199C>T
1 paper
NM_022845.3
p.S65fs
c.193_194fs
1 paper
NM_022845.3
p.Q67P
c.200A>C
1 paper
NM_022845.3
p.L66delFs
c.197_198delTC
1 paper
NM_022845.3
p.Q67H
c.201G>C
5 papers
NM_022845.3
p.F69insFs
c.207dupT
1 paper
NM_022845.3
p.Q67H
c.201G>T
1 paper
NM_022845.3
p.F69delFs
c.207delT
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."