Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.N133del1

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
3 papers
NM_001024630.4
p.N133del1
c.397_398delAAC
Surrounding Variants
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
1 paper
NM_001024630.4
p.N133_K134ins4
c.397_401ins12
1 paper
NM_001024630.4
p.N133_K134insFs
c.399_400ins11
3 papers
NM_001024630.4
p.R131S
c.391C>A
1 paper
NM_001024630.4
p.N133_K134ins5
c.399_400ins15
14 papers
NM_001024630.4
p.R131G
c.391C>G
10 papers
NM_001024630.4
p.R131C
c.391C>T
1 paper
NM_001024630.4
p.K134_T135ins4
c.400_404ins12
4 papers
NM_001024630.4
p.W130*
c.390G>A
4 papers
NM_001024630.4
p.W130*
c.389G>A
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