Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.S172fs

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
4 papers
NM_001024630.4
p.S172fs
c.514_515fs
Surrounding Variants
5 papers
NM_001024630.4
p.S172delFs
c.514delT
1 paper
NM_001024630.4
p.S172delFs
c.516delT
1 paper
NM_001024630.4
p.A171T
c.511G>A
1 paper
NM_001024630.4
p.A173_V174insGC
c.517_521ins6
1 paper
NM_001024630.4
p.N170N
c.510T>C
1 paper
NM_001024630.4
p.V174_F182del9
c.520_545del27
1 paper
NM_001024630.4
p.V174_V188del15
c.520_563del45
1 paper
NM_001024630.4
p.V174_M175ins4
c.520_524ins12
7 papers
NM_001024630.4
p.R169Q
c.506G>A
9 papers
NM_001024630.4
p.R169P
c.506G>C
2 papers
NM_001024630.4
p.M175insFs
c.523_524insA
1 paper
NM_001024630.4
p.M175fs
c.523_524fs
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