Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.R228G

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.R228G
c.682A>G
Surrounding Variants
1 paper
NM_001278478.2
p.P213_R214ins4
c.637_641ins12
1 paper
NM_001278478.2
p.P213_R214ins12
c.637_641ins36
1 paper
NM_001024630.4
p.P227S
c.679C>T
5 papers
NM_001024630.4
p.R229Splc
c.685+1G>T
NM_001278478.2
p.R215Splc
c.643+1G>T
1 paper
NM_001024630.4
p.R229Splc
c.685+2T>C
1 paper
NM_001024630.4
p.E226K
c.676G>A
43 papers
NM_001024630.4
p.R225Q
c.674G>A
3 papers
NM_001024630.4
p.R229Splc
c.685+5G>A
7 papers
NM_001024630.4
p.R225L
c.674G>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
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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."