Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.R190P

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
6 papers
NM_001024630.4
p.R190P
c.569G>C
Surrounding Variants
17 papers
NM_001024630.4
p.R190Q
c.569G>A
16 papers
NM_001024630.4
p.R190W
c.568C>T
9 papers
NM_001024630.4
p.S191N
c.572G>A
4 papers
NM_001024630.4
p.G192R
c.574G>A
4 papers
NM_001024630.4
p.G192R
c.574G>C
1 paper
NM_001024630.4
p.V188M
c.562G>A
1 paper
NM_001024630.4
p.V188_G189ins15
c.562_566ins45
3 papers
NM_001024630.4
p.R193G
c.577C>G
15 papers
NM_001024630.4
p.R193*
c.577C>T
7 papers
NM_001024630.4
p.R193Q
c.578G>A
1 paper
NM_001024630.4
p.R193P
c.578G>C
1 paper
NM_001024630.4
p.R193L
c.578G>T
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