Varaico: Literature-Extracted Genetic Variants

Gene:RUNX3
Variant:p.V141L

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.V141L
c.421G>C
Surrounding Variants
2 papers
NM_004350.3
p.V141L
c.421G>T
1 paper
NM_004350.3
p.R139R
c.417C>T
1 paper
NM_004350.3
p.R139P
c.416G>C
1 paper
NM_004350.3
p.R143C
c.427C>T
2 papers
NM_004350.3
p.R139G
c.415C>G
1 paper
NM_004350.3
p.R143L
c.428G>T
1 paper
NM_004350.3
p.R143H
c.428G>A
1 paper
NM_004350.3
p.S144T
c.431G>C
1 paper
NM_004350.3
p.G145A
c.434G>C
3 papers
NM_004350.3
p.G145E
c.434G>A
1 paper
NM_004350.3
p.R146*
c.436C>T
1 paper
NM_004350.3
p.R146P
c.437G>C
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