Varaico: Literature-Extracted Genetic Variants

Gene:RUNX3
Variant:p.K129R

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.K129R
c.386A>G
Surrounding Variants
1 paper
NM_004350.3
p.M128insFs
c.383_384insT
1 paper
NM_004350.3
p.M128V
c.382A>G
1 paper
NM_004350.3
p.Q131Q
c.393G>A
2 papers
NM_004350.3
p.A126delFs
c.377delG
1 paper
NM_004350.3
p.A126T
c.376G>A
1 paper
NM_004350.3
p.S125T
c.373T>A
2 papers
NM_004350.3
p.L121_N123del3
c.361_368del9
1 paper
NM_004350.3
p.F135L
c.403T>C
1 paper
NM_004350.3
p.F135L
c.405C>G
1 paper
NM_004350.3
p.F135L
c.405C>A
20 papers
NM_004350.3
p.R122C
c.364C>T
1 paper
NM_004350.3
p.L121R
c.362T>G
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