Bibliome.ai browser hg19
Search
About
Stats
FAQ
RUNX2 c.259G>A ;(p.A87T)
Variant ID: 6-45390530-G-A
NM_001024630.3(
RUNX2
):c.259G>A;(p.A87T)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Crystal and EM structures of human phosphoribosyl pyrophosphate synthase I (PRS1) provide novel insights into the disease-associated mutations.
Plos One
Chen, Peng P; Liu, Zheng Z; Wang, Xuejuan X; Peng, Junhui J; Sun, Qianqian Q; Li, Jianzhong J; Wang, Mingxing M; Niu, Liwen L; Zhang, Zhiyong Z; Cai, Gang G; Teng, Maikun M; Li, Xu X
Publication Date: 2015
Variant appearance in text: CCD: A87T
PubMed Link:
25781187
Variant Present in the following documents:
Main text
pone.0120304.pdf
View BVdb publication page
An improved monomeric infrared fluorescent protein for neuronal and tumour brain imaging.
Nature Communications
Yu, Dan D; Gustafson, William Clay WC; Han, Chun C; Lafaye, CĂ©line C; Noirclerc-Savoye, Marjolaine M; Ge, Woo-Ping WP; Thayer, Desiree A DA; Huang, Hai H; Kornberg, Thomas B TB; Royant, Antoine A; Jan, Lily Yeh LY; Jan, Yuh Nung YN; Weiss, William A WA; Shu, Xiaokun X
Publication Date: 2014-05-15
Variant appearance in text: CCD: A87T
PubMed Link:
24832154
Variant Present in the following documents:
Main text
nihms575216.pdf
View BVdb publication page