Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.P149L

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.P149L
c.446C>T
Surrounding Variants
1 paper
NM_001024630.4
p.P149_D150delFs
c.446_450del5
3 papers
NM_001024630.4
p.V148A
c.443T>C
1 paper
NM_001024630.4
p.V148_T152Fs
c.443_454delinsGFs
1 paper
NM_001278478.2
p.V134_P135ins4
c.400_404ins12
1 paper
NM_001024630.4
p.V148fs
c.442_443fs
1 paper
NM_001024630.4
p.G151A
c.452G>C
1 paper
NM_001024630.4
p.E147K
c.439G>A
1 paper
NM_001024630.4
p.G146G
c.438A>G
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_001278478.2
p.L131I
c.391C>A
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