Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2

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
1–12 of 718 variants
43 papers
NM_001024630.4
p.R225Q
c.674G>A
21 papers
NM_001024630.4
p.R391*
c.1171C>T
20 papers
NM_001024630.4
p.R225W
c.673C>T
19 papers
NM_001024630.4
p.T200A
c.598A>G
17 papers
NM_001024630.4
p.R190Q
c.569G>A
16 papers
NM_001024630.4
p.R190W
c.568C>T
15 papers
NM_001024630.4
p.R193*
c.577C>T
14 papers
NM_001024630.4
p.R131G
c.391C>G
11 papers
NM_001024630.4
p.S118R
c.352A>C
11 papers
NM_001024630.4
p.S118R
c.354C>A
11 papers
NM_001024630.4
p.S118R
c.354C>G
10 papers
NM_001024630.4
p.R131C
c.391C>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."