Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.R464W

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.R464W
c.1390C>T
Surrounding Variants
1 paper
NM_001015051.4
p.R442delFs
c.1325delG
1 paper
NM_001024630.4
p.R464Q
c.1391G>A
5 papers
NM_001024630.4
p.G462*
c.1384G>T
1 paper
NM_001024630.4
p.G461A
c.1382G>C
4 papers
NM_001369405.1
p.G447R
c.1339G>A
NM_001024630.4
p.G461R
c.1381G>A
4 papers
NM_001369405.1
p.G447R
c.1339G>C
NM_001024630.4
p.G461R
c.1381G>C
3 papers
NM_001024630.4
p.P460_G461insFs
c.1380_1381insC
2 papers
NM_001024630.4
p.G462insFs
c.1385dupG
1 paper
NM_001024630.4
p.P460insFs
c.1379_1380insC
1 paper
NM_001024630.4
p.M469V
c.1405A>G
1 paper
NM_001024630.4
p.Q455Q
c.1365G>A
1 paper
NM_001278478.2
p.Y418*
c.1254T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."