Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.R169Q

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
7 papers
NM_001024630.4
p.R169Q
c.506G>A
Surrounding Variants
9 papers
NM_001024630.4
p.R169P
c.506G>C
2 papers
NM_001024630.4
p.R169W
c.505C>T
1 paper
NM_001024630.4
p.N170N
c.510T>C
1 paper
NM_001024630.4
p.A171T
c.511G>A
5 papers
NM_001024630.4
p.S172delFs
c.514delT
4 papers
NM_001024630.4
p.S172fs
c.514_515fs
1 paper
NM_001024630.4
p.S172delFs
c.516delT
1 paper
NM_001024630.4
p.A173_V174insGC
c.517_521ins6
1 paper
NM_001024630.4
p.S165S
c.495T>G
3 papers
NM_001024630.4
p.S165delFs
c.495delT
1 paper
NM_001024630.4
p.V174_F182del9
c.520_545del27
1 paper
NM_001024630.4
p.V174_V188del15
c.520_563del45
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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."