Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.A77_A79ins1

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_A79ins1
c.231_236dup6
Surrounding Variants
1 paper
NM_001024630.4
p.A77_A79del0
c.231_236del6
3 papers
NM_001024630.4
p.A77_R92delFs
c.230_276del47
2 papers
NM_001024630.4
p.A76E
c.227C>A
4 papers
NM_001024630.4
p.A77_A80ins1
c.231_239dup9
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.A77delFs
c.230_231delCT
2 papers
NM_001024630.4
p.A77_A78delFs
c.231_232delTG
1 paper
NM_001024630.4
p.A77_A81del0
c.231_242del12
1 paper
NM_001024630.4
p.A77_A87del0
c.231_260del30
1 paper
NM_001024630.4
p.A82_A83ins0
c.246_248dupGGC
4 papers
NM_001024630.4
p.A78del1
c.232_234delGCG
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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."