Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.V114I

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
1 paper
NM_001024630.4
p.V114I
c.340G>A
Surrounding Variants
1 paper
NM_001024630.4
p.L113H
c.338T>A
8 papers
NM_001024630.4
p.L113R
c.338T>G
1 paper
NM_001024630.4
p.L113F
c.337C>T
1 paper
NM_001024630.4
p.R115_T116insFs
c.345_346insT
3 papers
NM_001024630.4
p.E112*
c.334G>T
4 papers
NM_001024630.4
p.P110P
c.330G>T
11 papers
NM_001024630.4
p.S118R
c.352A>C
2 papers
NM_001024630.4
p.S118N
c.353G>A
1 paper
NM_001024630.4
p.P110delFs
c.329delC
11 papers
NM_001024630.4
p.S118R
c.354C>A
11 papers
NM_001024630.4
p.S118R
c.354C>G
1 paper
NM_001024630.4
p.S118S
c.354C>T
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