Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.Q433P

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.Q433P
c.1298A>C
Surrounding Variants
1 paper
NM_001024630.4
p.Q431*
c.1291C>T
1 paper
NM_001024630.4
p.P436L
c.1307C>T
2 papers
NM_001024630.4
p.G428fs
c.1282_1283fs
1 paper
NM_001278478.2
p.P391S
c.1171C>T
3 papers
NM_001024630.4
p.P427delFs
c.1281delC
1 paper
NM_001015051.4
p.S418R
c.1254C>A
1 paper
NM_001024630.4
p.P425fs
c.1273_1274fs
1 paper
NM_001015051.4
p.T420N
c.1259C>A
1 paper
NM_001024630.4
p.P424insFs
c.1271_1272ins20
1 paper
NM_001024630.4
p.P424insFs
c.1271_1272ins20
1 paper
NM_001015051.4
p.T420I
c.1259C>T
1 paper
NM_001369405.1
p.P410insFs
c.1228dupC
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