Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.S371insFs

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
3 papers
NM_001024630.4
p.S371insFs
c.1111dupT
Surrounding Variants
3 papers
NM_001024630.4
p.S371_P377delFs
c.1111_1129del19
1 paper
NM_001024630.4
p.S371fs
c.1111_1112fs
1 paper
NM_001024630.4
p.S371*
c.1112C>A
1 paper
NM_001024630.4
p.S371*
c.1112C>G
1 paper
NM_001024630.4
p.L367fs
c.1099_1100fs
3 papers
NM_001024630.4
p.P373insFs
c.1119dupC
5 papers
NM_001024630.4
p.P373delFs
c.1119delC
1 paper
NM_001024630.4
p.E366K
c.1096G>A
1 paper
NM_001024630.4
p.E366insFs
c.1096_1097insC
8 papers
NM_001024630.4
p.E366*
c.1096G>T
1 paper
NM_001024630.4
p.R374fs
c.1120_1121fs
1 paper
NM_001024630.4
p.R374G
c.1120A>G
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."