Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.T200A

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
19 papers
NM_001024630.4
p.T200A
c.598A>G
Surrounding Variants
4 papers
NM_001024630.4
p.T200I
c.599C>T
7 papers
NM_001024630.4
p.L199F
c.597G>C
7 papers
NM_001024630.4
p.L199F
c.597G>T
1 paper
NM_001024630.4
p.L199*
c.596T>A
1 paper
NM_001024630.4
p.T198_L199Fs
c.594_595delinsGFs
4 papers
NM_001024630.4
p.I201K
c.602T>A
1 paper
NM_001024630.4
p.T202delFs
c.604delA
1 paper
NM_001024630.4
p.T198delFs
c.592delA
2 papers
NM_001024630.4
p.F197S
c.590T>C
2 papers
NM_001024630.4
p.T198_I201del0
c.593_601del9
1 paper
NM_001024630.4
p.V203A
c.608T>C
1 paper
NM_001024630.4
p.S196_T198del3
c.586_593del9
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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."