Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.P127L

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
2 papers
NM_001024630.4
p.P127L
c.380C>T
Surrounding Variants
1 paper
NM_001024630.4
p.S128insFs
c.382_383insT
1 paper
NM_001024630.4
p.P127S
c.379C>T
1 paper
NM_001024630.4
p.S128insFs
c.382_383insG
3 papers
NM_001024630.4
p.S128*
c.383C>A
6 papers
NM_001024630.4
p.S128insFs
c.383_384insT
1 paper
NM_001024630.4
p.S128L
c.383C>T
2 papers
NM_001024630.4
p.H129R
c.386A>G
1 paper
NM_001369405.1
p.S110S
c.330G>T
1 paper
NM_001024630.4
p.S124*
c.371C>A
3 papers
NM_001024630.4
p.S124W
c.371C>G
4 papers
NM_001024630.4
p.W130*
c.389G>A
1 paper
NM_001024630.4
p.W130L
c.389G>T
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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."