Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.A158E

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.A158E
c.473C>A
Surrounding Variants
1 paper
NM_001024630.4
p.G159delFs
c.476delG
2 papers
NM_001024630.4
p.A158T
c.472G>A
1 paper
NM_001024630.4
p.G159_N170del12
c.475_509del36
3 papers
NM_001024630.4
p.G159R
c.475G>C
1 paper
NM_001024630.4
p.G159_N160insAAG
c.475_479ins9
3 papers
NM_001024630.4
p.G159D
c.476G>A
1 paper
NM_001024630.4
p.M157_A158insFs
c.471_472dupGG
2 papers
NM_001024630.4
p.M157insFs
c.470dupT
1 paper
NM_001024630.4
p.M157fs
c.469_470fs
1 paper
NM_001024630.4
p.M157insFs
c.469dupA
2 papers
NM_001024630.4
p.V156D
c.467T>A
5 papers
NM_001024630.4
p.V156G
c.467T>G
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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."