Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.F187I

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.F187I
c.559T>A
Surrounding Variants
2 papers
NM_001024630.4
p.F187S
c.560T>C
4 papers
NM_001024630.4
p.R186T
c.557G>C
1 paper
NM_001024630.4
p.V188M
c.562G>A
1 paper
NM_001024630.4
p.V188_G189ins15
c.562_566ins45
1 paper
NM_001024630.4
p.L185_R186ins6
c.553_557ins18
16 papers
NM_001024630.4
p.R190W
c.568C>T
17 papers
NM_001024630.4
p.R190Q
c.569G>A
6 papers
NM_001024630.4
p.R190P
c.569G>C
1 paper
NM_001024630.4
p.N183I
c.548A>T
2 papers
NM_001024630.4
p.N183delFs
c.549delC
1 paper
NM_001024630.4
p.F182L
c.546C>A
9 papers
NM_001024630.4
p.S191N
c.572G>A
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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."