Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.N160N

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.N160N
c.480C>T
Surrounding Variants
1 paper
NM_001024630.4
p.N160K
c.480C>A
1 paper
NM_001024630.4
p.N160K
c.480C>G
1 paper
NM_001024630.4
p.D161N
c.481G>A
1 paper
NM_001024630.4
p.D161delFs
c.482delA
3 papers
NM_001024630.4
p.G159D
c.476G>A
2 papers
NM_001024630.4
p.E162*
c.484G>T
1 paper
NM_001024630.4
p.E162V
c.485A>T
3 papers
NM_001024630.4
p.G159R
c.475G>C
1 paper
NM_001024630.4
p.G159_N160insAAG
c.475_479ins9
1 paper
NM_001024630.4
p.G159_N170del12
c.475_509del36
1 paper
NM_001024630.4
p.N163H
c.487A>C
1 paper
NM_001024630.4
p.A158E
c.473C>A
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