Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.G223V

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
1 paper
NM_001024630.4
p.G223V
c.668G>T
Surrounding Variants
3 papers
NM_001024630.4
p.G223R
c.667G>A
3 papers
NM_001024630.4
p.G223R
c.667G>C
1 paper
NM_001024630.4
p.P224A
c.670C>G
2 papers
NM_001024630.4
p.P224S
c.670C>T
1 paper
NM_001024630.4
p.R225R
c.673C>A
1 paper
NM_001024630.4
p.R225G
c.673C>G
20 papers
NM_001024630.4
p.R225W
c.673C>T
43 papers
NM_001024630.4
p.R225Q
c.674G>A
7 papers
NM_001024630.4
p.R225L
c.674G>T
2 papers
NM_001024630.4
p.V221E
c.662T>A
4 papers
NM_001024630.4
p.V221G
c.662T>G
1 paper
NM_001024630.4
p.E226K
c.676G>A
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