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RUNX2 c.338T>G ;(p.L113R)
Variant ID: 6-45390609-T-G
NM_001024630.3(
RUNX2
):c.338T>G;(p.L113R)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
A Novel lncRNA Mediates the Delayed Tooth Eruption of Cleidocranial Dysplasia.
Cells
Xin, Yuejiao Y; Liu, Yang Y; Li, Jie J; Liu, Dandan D; Zhang, Chenying C; Wang, Yixiang Y; Zheng, Shuguo S
Publication Date: 2022-09-01
Variant appearance in text: CCD: 338T>G
PubMed Link:
36078141
Variant Present in the following documents:
cells-11-02729.pdf
View BVdb publication page
Identification of a novel mutation of RUNX2 in a family with supernumerary teeth and craniofacial dysplasia by whole-exome sequencing: A case report and literature review.
Medicine
Ma, Dan D; Wang, Xuxia X; Guo, Jun J; Zhang, Jun J; Cai, Tao T
Publication Date: 2018-08
Variant appearance in text: RUNX2: 338T>G
PubMed Link:
30095610
Variant Present in the following documents:
View BVdb publication page
Analysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia.
Plos One
Zhang, Xianli X; Liu, Yang Y; Wang, Xiaozhe X; Sun, Xiangyu X; Zhang, Chenying C; Zheng, Shuguo S
Publication Date: 2017
Variant appearance in text: RUNX2: 338T>G
PubMed Link:
28738062
Variant Present in the following documents:
Main text
pone.0181653.pdf
View BVdb publication page
GESPA: classifying nsSNPs to predict disease association.
Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25
Variant appearance in text: RUNX2: L113R
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page