Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.R374fs

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.R374fs
c.1120_1121fs
Surrounding Variants
1 paper
NM_001024630.4
p.R374G
c.1120A>G
2 papers
NM_001024630.4
p.R374delFs
c.1121delG
2 papers
NM_001024630.4
p.R374fs
c.1120_1121fs
1 paper
NM_001015051.4
p.R352R
c.1056G>A
2 papers
NM_001024630.4
p.Q375insFs
c.1123_1124insA
1 paper
NM_001369405.1
p.Q361*
c.1081C>T
3 papers
NM_001024630.4
p.P373insFs
c.1119dupC
5 papers
NM_001024630.4
p.P373delFs
c.1119delC
2 papers
NM_001024630.4
p.F376insFs
c.1127_1128insT
1 paper
NM_001024630.4
p.Q375H
c.1125G>T
1 paper
NM_001024630.4
p.S371*
c.1112C>A
3 papers
NM_001024630.4
p.F376_P377insFs
c.1128_1129insT
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