Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.S118R

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
11 papers
NM_001024630.4
p.S118R
c.352A>C
Surrounding Variants
2 papers
NM_001024630.4
p.S118N
c.353G>A
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
1 paper
NM_001024630.4
p.N120_F121ins12
c.358_362ins36
1 paper
NM_001024630.4
p.R115_T116insFs
c.345_346insT
6 papers
NM_001024630.4
p.F121C
c.362T>G
1 paper
NM_001024630.4
p.V114I
c.340G>A
1 paper
NM_001024630.4
p.L122_C123delins
c.366_367delinsTC
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
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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."