Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.D497N

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
2 papers
NM_001024630.4
p.D497N
c.1489G>A
Surrounding Variants
1 paper
NM_001024630.4
p.D495A
c.1484A>C
1 paper
NM_001024630.4
p.G493R
c.1477G>C
1 paper
NM_001024630.4
p.S503Y
c.1508C>A
1 paper
NM_001278478.2
p.Q454R
c.1361A>G
1 paper
NM_001024630.4
p.L507M
c.1519T>A
1 paper
NM_001024630.4
p.G511delFs
c.1532delG
6 papers
NM_001024630.4
p.G511S
c.1531G>A
1 paper
NM_001024630.4
p.G511A
c.1532G>C
1 paper
NM_001024630.4
p.T481M
c.1442C>T
1 paper
NM_001024630.4
p.V517_W518delFs
c.1550_1553del4
1 paper
NM_001024630.4
p.V517fs
c.1549_1550fs
4 papers
NM_001024630.4
p.V517delFs
c.1550delT
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