Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.F204Y

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.F204Y
c.611T>A
Surrounding Variants
7 papers
NM_001024630.4
p.T205R
c.614C>G
1 paper
NM_001024630.4
p.V203A
c.608T>C
4 papers
NM_001024630.4
p.I201K
c.602T>A
1 paper
NM_001024630.4
p.T202delFs
c.604delA
1 paper
NM_001024630.4
p.P208_Q209insFs
c.624_625dupCC
1 paper
NM_001024630.4
p.P208S
c.622C>T
1 paper
NM_001024630.4
p.P208insFs
c.623_624insT
4 papers
NM_001024630.4
p.T200I
c.599C>T
19 papers
NM_001024630.4
p.T200A
c.598A>G
4 papers
NM_001024630.4
p.Q209*
c.625C>T
7 papers
NM_001024630.4
p.L199F
c.597G>C
7 papers
NM_001024630.4
p.L199F
c.597G>T
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