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RUNX2 c.1539G>A ;(p.M513I)
Variant ID: 6-45515015-G-A
NM_001024630.3(
RUNX2
):c.1539G>A;(p.M513I)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
A voltage-dependent K+ channel in the lysosome is required for refilling lysosomal Ca2+ stores.
The Journal Of Cell Biology
Wang, Wuyang W; Zhang, Xiaoli X; Gao, Qiong Q; Lawas, Maria M; Yu, Lu L; Cheng, Xiping X; Gu, Mingxue M; Sahoo, Nirakar N; Li, Xinran X; Li, Ping P; Ireland, Stephen S; Meredith, Andrea A; Xu, Haoxing H
Publication Date: 2017-06-05
Variant appearance in text: CCD: M513I
PubMed Link:
28468834
Variant Present in the following documents:
Main text
View BVdb publication page
State-dependent FRET reports calcium- and voltage-dependent gating-ring motions in BK channels.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Miranda, Pablo P; Contreras, Jorge E JE; Plested, Andrew J R AJ; Sigworth, Fred J FJ; Holmgren, Miguel M; Giraldez, Teresa T
Publication Date: 2013-03-26
Variant appearance in text: CCD: M513I
PubMed Link:
23479636
Variant Present in the following documents:
Main text
View BVdb publication page
A genetic analysis of the Drosophila mcm5 gene defines a domain specifically required for meiotic recombination.
Genetics
Lake, Cathleen M CM; Teeter, Kathy K; Page, Scott L SL; Nielsen, Rachel R; Hawley, R Scott RS
Publication Date: 2007-08
Variant appearance in text: CCD: M513I
PubMed Link:
17565942
Variant Present in the following documents:
Main text
View BVdb publication page