Varaico: Literature-Extracted Genetic Variants

Gene:RUNX3
Variant:p.A48V

RUNX3

166 papers

RefSeq Summary

This gene encodes a member of the runt domain-containing family of transcription factors. A heterodimer of this protein and a beta subunit forms a complex that binds to the core DNA sequence 5'-PYGPYG...

Pfam Domains

Runtaa 55–183UCSCRunt domain
RunxIaa 316–415UCSCRunx inhibition domain

Gene Aliases

HGNC Name

RUNX family transcription factor 3

HGNC Previous Symbol

CBFA3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004350.3
p.A48V
c.143C>T
Surrounding Variants
1 paper
NM_004350.3
p.P50P
c.150C>T
1 paper
NM_004350.3
p.G45ins1
c.134_135insGTA
1 paper
NM_004350.3
p.G45R
c.133G>C
1 paper
NM_004350.3
p.G45R
c.133G>A
1 paper
NM_004350.3
p.V52V
c.156G>C
1 paper
NM_004350.3
p.R53G
c.157C>G
1 paper
NM_004350.3
p.G43R
c.127G>C
1 paper
NM_004350.3
p.G43R
c.127G>A
1 paper
NM_004350.3
p.R53R
c.159C>G
1 paper
NM_004350.3
p.V42V
c.126G>T
2 papers
NM_004350.3
p.A41del1
c.121_123delGGC
1 paper
NM_004350.3
p.A41A
c.123C>A
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