Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.L410fs

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.L410fs
c.1228_1229fs
Surrounding Variants
1 paper
NM_001024630.4
p.L410I
c.1228C>A
3 papers
NM_001024630.4
p.L410insFs
c.1228dupC
1 paper
NM_001278478.2
p.S373delFs
c.1119delC
1 paper
NM_001278478.2
p.M376insFs
c.1127_1128insT
1 paper
NM_001024630.4
p.M408V
c.1222A>G
1 paper
NM_001278478.2
p.G371_S377delFs
c.1111_1129del19
1 paper
NM_001369405.1
p.A400insFs
c.1199dupC
1 paper
NM_001024630.4
p.S406insFs
c.1216_1217insC
1 paper
NM_001024630.4
p.T405_S406insFs
c.1215_1216insC
1 paper
NM_001024630.4
p.T416insFs
c.1246_1247ins4
1 paper
NM_001024630.4
p.V404fs
c.1210_1211fs
1 paper
NM_001015051.4
p.T394T
c.1182T>A
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