Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.E90_I91insC

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_001278478.2
p.E90_I91insC
c.268_272ins3
Surrounding Variants
1 paper
NM_001278478.2
p.I92_A93ins4
c.274_278ins12
1 paper
NM_001024630.4
p.M102delFs
c.305delT
1 paper
NM_001278478.2
p.I92_A93insFs
c.276_277ins17
1 paper
NM_001024630.4
p.A107P
c.319G>C
1 paper
NM_001024630.4
p.R100L
c.299G>T
1 paper
NM_001024630.4
p.N99fs
c.295_296fs
1 paper
NM_001024630.4
p.P110delFs
c.329delC
2 papers
NM_001024630.4
p.N99insFs
c.295_296insA
4 papers
NM_001024630.4
p.P110P
c.330G>T
3 papers
NM_001024630.4
p.E112*
c.334G>T
1 paper
NM_001024630.4
p.P95S
c.283C>T
1 paper
NM_001024630.4
p.L113F
c.337C>T
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."