Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.Q209H

RUNX2

575 papers

RefSeq Summary

This gene is a member of the RUNX family of transcription factors and encodes a nuclear protein with an Runt DNA-binding domain. This protein is essential for osteoblastic differentiation and skeletal...

Pfam Domains

Runtaa 102–230UCSCRunt domain
RunxIaa 430–521UCSCRunx inhibition domain

Gene Aliases

HGNC Name

RUNX family transcription factor 2

HGNC Previous Symbols

CCD; CBFA1; CCD1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_001024630.4
p.Q209H
c.627A>T
Surrounding Variants
4 papers
NM_001024630.4
p.Q209H
c.627A>C
1 paper
NM_001024630.4
p.Q209P
c.626A>C
6 papers
NM_001024630.4
p.Q209R
c.626A>G
4 papers
NM_001024630.4
p.Q209*
c.625C>T
1 paper
NM_001024630.4
p.A211ins0
c.631_633dupGCT
1 paper
NM_001024630.4
p.A211_Y213del3
c.631_638del9
1 paper
NM_001024630.4
p.P208insFs
c.623_624insT
2 papers
NM_001024630.4
p.A211P
c.631G>C
1 paper
NM_001024630.4
p.P208S
c.622C>T
1 paper
NM_001024630.4
p.P208_Q209insFs
c.624_625dupCC
1 paper
NM_001024630.4
p.T212_R215del4
c.634_644del12
1 paper
NM_001024630.4
p.T212_Y213insFs
c.636_637insC
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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."