Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.L136P

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
6 papers
NM_001024630.4
p.L136P
c.407T>C
Surrounding Variants
1 paper
NM_001024630.4
p.L136Q
c.407T>A
1 paper
NM_001024630.4
p.T135T
c.405C>G
1 paper
NM_001024630.4
p.T135_L136insFs
c.405_406insC
1 paper
NM_001024630.4
p.V138insFs
c.412_413insG
1 paper
NM_001024630.4
p.K134_T135ins4
c.400_404ins12
1 paper
NM_001024630.4
p.N133_K134ins5
c.399_400ins15
1 paper
NM_001024630.4
p.N133_K134insFs
c.399_400ins11
1 paper
NM_001024630.4
p.A139G
c.416C>G
1 paper
NM_001024630.4
p.N133_K134ins4
c.397_401ins12
2 papers
NM_001024630.4
p.C132*
c.396C>A
1 paper
NM_001278478.2
p.C118C
c.354C>T
1 paper
NM_001024630.4
p.N133delFs
c.398delA
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