Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.Y394H

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.Y394H
c.1180T>C
Surrounding Variants
5 papers
NM_001024630.4
p.Y394*
c.1182T>A
4 papers
NM_001024630.4
p.Y394*
c.1182T>G
1 paper
NM_001015051.4
p.H371_T377delFs
c.1111_1129del19
1 paper
NM_001024630.4
p.A396V
c.1187C>T
1 paper
NM_001024630.4
p.R391Q
c.1172G>A
1 paper
NM_001024630.4
p.T397delFs
c.1191delC
21 papers
NM_001024630.4
p.R391*
c.1171C>T
1 paper
NM_001015051.4
p.F376insFs
c.1127_1128insT
1 paper
NM_001024630.4
p.P390L
c.1169C>T
1 paper
NM_001024630.4
p.F398L
c.1192T>C
1 paper
NM_001024630.4
p.F398fs
c.1192_1193fs
1 paper
NM_001024630.4
p.N389S
c.1166A>G
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