Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.R386G

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.R386G
c.1156C>G
Surrounding Variants
5 papers
NM_001024630.4
p.R386delFs
c.1157delG
1 paper
NM_001369405.1
p.S371fs
c.1111_1112fs
1 paper
NM_001369405.1
p.S371insFs
c.1111dupA
1 paper
NM_001369405.1
p.F373insFs
c.1119dupC
1 paper
NM_001024630.4
p.S388Y
c.1163C>A
2 papers
NM_001024630.4
p.S385delFs
c.1153_1154delAG
1 paper
NM_001024630.4
p.N389insFs
c.1165_1166insA
1 paper
NM_001024630.4
p.N389S
c.1166A>G
3 papers
NM_001024630.4
p.P390delFs
c.1169delC
1 paper
NM_001024630.4
p.L382_T383insG
c.1144_1148ins3
1 paper
NM_001024630.4
p.P390L
c.1169C>T
21 papers
NM_001024630.4
p.R391*
c.1171C>T
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