Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.K218N

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
3 papers
NM_001024630.4
p.K218N
c.654A>T
Surrounding Variants
2 papers
NM_001024630.4
p.K218N
c.654A>C
4 papers
NM_001024630.4
p.K218Q
c.652A>C
3 papers
NM_001024630.4
p.K218E
c.652A>G
1 paper
NM_001024630.4
p.K218*
c.652A>T
1 paper
NM_001024630.4
p.K218fs
c.652_653fs
2 papers
NM_001024630.4
p.I217_K218delFs
c.651_652delTA
1 paper
NM_001024630.4
p.T220R
c.659C>G
4 papers
NM_001024630.4
p.T220I
c.659C>T
1 paper
NM_001024630.4
p.I217_V219del3
c.649_656del9
1 paper
NM_001024630.4
p.A216T
c.646G>A
2 papers
NM_001024630.4
p.V221E
c.662T>A
4 papers
NM_001024630.4
p.V221G
c.662T>G
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