Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.P95S

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.P95S
c.283C>T
Surrounding Variants
1 paper
NM_001024630.4
p.R94Q
c.281G>A
2 papers
NM_001024630.4
p.R94delFs
c.282delG
6 papers
NM_001024630.4
p.L93*
c.278T>A
1 paper
NM_001024630.4
p.L93M
c.277T>A
3 papers
NM_001024630.4
p.R92_L93insFs
c.276_277ins17
2 papers
NM_001024630.4
p.L93insFs
c.278_279insT
1 paper
NM_001024630.4
p.R92Q
c.275G>A
1 paper
NM_001024630.4
p.R92_L93ins4
c.274_278ins12
2 papers
NM_001024630.4
p.N99insFs
c.295_296insA
1 paper
NM_001024630.4
p.N99fs
c.295_296fs
1 paper
NM_001024630.4
p.R92delFs
c.274delC
1 paper
NM_001024630.4
p.V90_P91insC
c.268_272ins3
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."