Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.A77_A81del0

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.A77_A81del0
c.231_242del12
Surrounding Variants
1 paper
NM_001024630.4
p.A77_A87del0
c.231_260del30
1 paper
NM_001024630.4
p.E72D
c.216G>C
1 paper
NM_001024630.4
p.A77_A82ins2
c.231_245dup15
4 papers
NM_001024630.4
p.A77_A80ins1
c.231_239dup9
1 paper
NM_001024630.4
p.A77_A82del0
c.231_245del15
1 paper
NM_001024630.4
p.A77_A80del0
c.231_239del9
1 paper
NM_001024630.4
p.A77_A86del0
c.231_257del27
1 paper
NM_001024630.4
p.A76_A77ins0
c.228_230dupGGC
1 paper
NM_001024630.4
p.A75_A77ins1
c.225_230dup6
1 paper
NM_001024630.4
p.A74_A77ins1
c.222_230dup9
2 papers
NM_001024630.4
p.A87ins6
c.260_261ins18
1 paper
NM_001024630.4
p.A73delFs
c.217delG
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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."