Varaico: Literature-Extracted Genetic Variants

Gene:RUNX1
Variant:p.R166_S167ins5

RUNX1

1,689 papers

RefSeq Summary

Core binding factor (CBF) is a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. The protein encoded by this gene represents the alpha subunit of CBF a...

Pfam Domains

Runtaa 51–179UCSCRunt domain
RunxIaa 362–453UCSCRunx inhibition domain

Gene Aliases

HGNC Name

RUNX family transcription factor 1

HGNC Previous Symbols

AML1; CBFA2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001754.5
p.R166_S167ins5
c.496_500ins15
Surrounding Variants
62 papers
NM_001001890.3
p.R139*
c.415C>T
NM_001754.5
p.R166*
c.496C>T
29 papers
NM_001754.5
p.R166G
c.496C>G
NM_001001890.3
p.R139G
c.415C>G
1 paper
NM_001754.5
p.G165_R166insFs
c.495_496insTT
1 paper
NM_001754.5
p.R166insFs
c.496_497ins7
1 paper
NM_001754.5
p.G165delFs
c.495delA
4 papers
NM_001754.5
p.R166fs
c.496_497fs
2 papers
NM_001754.5
p.G165_R166insFs
c.495_496insGG
1 paper
NM_001754.5
p.G165_R166ins2
c.495_496ins6
18 papers
NM_001754.5
p.G165fs
c.493_494fs
1 paper
NM_001754.5
p.G165_R166ins3
c.495_496ins9
5 papers
NM_001754.5
p.R166L
c.497G>T
1 paper
NM_001001890.3
p.R139insFs
c.416_417ins7
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