Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.V142G

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.V142G
c.425T>G
Surrounding Variants
1 paper
NM_001024630.4
p.V142A
c.425T>C
1 paper
NM_001024630.4
p.K141_V142Splc
c.424-1G>T
1 paper
NM_001024630.4
p.V143A
c.428T>C
1 paper
NM_001278478.2
p.L131I
c.391C>A
2 papers
NM_001278478.2
p.L131V
c.391C>G
1 paper
NM_001278478.2
p.L131F
c.391C>T
5 papers
NM_001024630.4
p.G146R
c.436G>A
5 papers
NM_001024630.4
p.G146R
c.436G>C
2 papers
NM_001024630.4
p.G146*
c.436G>T
1 paper
NM_001024630.4
p.G146G
c.438A>G
1 paper
NM_001024630.4
p.E147K
c.439G>A
1 paper
NM_001278478.2
p.V134_P135ins4
c.400_404ins12
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