Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.Y446_S450del5

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.Y446_S450del5
c.1336_1349del15
Surrounding Variants
1 paper
NM_001024630.4
p.L445_Y446delFs
c.1335_1336delCT
1 paper
NM_001015051.4
p.T420N
c.1259C>A
1 paper
NM_001015051.4
p.T420I
c.1259C>T
1 paper
NM_001015051.4
p.S418R
c.1254C>A
4 papers
NM_001024630.4
p.S451A
c.1351T>G
1 paper
NM_001024630.4
p.Y454C
c.1361A>G
1 paper
NM_001024630.4
p.Y454F
c.1361A>T
1 paper
NM_001278478.2
p.Y418*
c.1254T>A
1 paper
NM_001278478.2
p.Y418*
c.1254T>G
1 paper
NM_001024630.4
p.P436L
c.1307C>T
1 paper
NM_001024630.4
p.Q455Q
c.1365G>A
1 paper
NM_001024630.4
p.Q433P
c.1298A>C
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