Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.Y418*

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.Y418*
c.1254C>G
Surrounding Variants
4 papers
NM_001024630.4
p.Y418*
c.1254C>A
1 paper
NM_001024630.4
p.Y418F
c.1253A>T
7 papers
NM_001024630.4
p.T420N
c.1259C>A
2 papers
NM_001024630.4
p.H417insFs
c.1250_1251insA
10 papers
NM_001024630.4
p.T420I
c.1259C>T
1 paper
NM_001015051.4
p.T394T
c.1182T>A
1 paper
NM_001024630.4
p.H417delFs
c.1250_1251delAC
1 paper
NM_001024630.4
p.T416insFs
c.1246_1247ins4
1 paper
NM_001024630.4
p.P423_Y426delFs
c.1268_1277del10
1 paper
NM_001369405.1
p.A400insFs
c.1199dupC
1 paper
NM_001369405.1
p.P410insFs
c.1228dupC
1 paper
NM_001024630.4
p.P424delFs
c.1271delC
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