Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.Y213fs

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.Y213fs
c.637_638fs
Surrounding Variants
1 paper
NM_001024630.4
p.Y213_H214ins4
c.637_641ins12
3 papers
NM_001024630.4
p.Y213_H214ins12
c.637_641ins36
1 paper
NM_001024630.4
p.Y213C
c.638A>G
1 paper
NM_001024630.4
p.Y213*
c.639T>A
1 paper
NM_001024630.4
p.Y213*
c.639T>G
1 paper
NM_001024630.4
p.T212_Y213insFs
c.636_637insC
1 paper
NM_001024630.4
p.T212P
c.634A>C
3 papers
NM_001024630.4
p.T212delFs
c.636delC
1 paper
NM_001024630.4
p.H214fs
c.640_641fs
1 paper
NM_001024630.4
p.T212_R215del4
c.634_644del12
2 papers
NM_001024630.4
p.R215delFs
c.644delG
2 papers
NM_001024630.4
p.A211P
c.631G>C
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