Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.A82S

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.A82S
c.244G>T
Surrounding Variants
1 paper
NM_001024630.4
p.A82P
c.244G>C
1 paper
NM_001024630.4
p.A82_A88ins2
c.246_263dup18
1 paper
NM_001024630.4
p.A82insFs
c.244_245insTG
1 paper
NM_001024630.4
p.A82_A88del0
c.246_263del18
1 paper
NM_001024630.4
p.A81G
c.242C>G
1 paper
NM_001024630.4
p.A84_A89ins2
c.252_266dup15
8 papers
NM_001024630.4
p.A80A
c.240G>A
NM_001369405.1
p.A66A
c.198G>A
1 paper
NM_001024630.4
p.A83_A86ins1
c.249_257dup9
1 paper
NM_001024630.4
p.A86_A87ins0
c.258_260dupGGC
1 paper
NM_001278478.2
p.A69_A70insFs
c.207_208ins13
1 paper
NM_001024630.4
p.A84_A89del6
c.250_266del18
1 paper
NM_001024630.4
p.A84_R92del0
c.250_276del27
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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."