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RUNX2 c.284C>T ;(p.P95L)
Variant ID: 6-45390555-C-T
NM_001024630.3(
RUNX2
):c.284C>T;(p.P95L)
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:
Disruption of lipid homeostasis in the Gram-negative cell envelope activates a novel cell death pathway.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Sutterlin, Holly A HA; Shi, Handuo H; May, Kerrie L KL; Miguel, Amanda A; Khare, Somya S; Huang, Kerwyn Casey KC; Silhavy, Thomas J TJ
Publication Date: 2016-03-15
Variant appearance in text: CCD: P95L
PubMed Link:
26929379
Variant Present in the following documents:
Main text
View BVdb publication page
Wild type RTA and less toxic variants have distinct requirements for Png1 for their depurination activity and toxicity in Saccharomyces cerevisiae.
Plos One
Yan, Qing Q; Li, Xiao-Ping XP; Tumer, Nilgun E NE
Publication Date: 2014
Variant appearance in text: CCD: P95L
PubMed Link:
25436896
Variant Present in the following documents:
Main text
pone.0113719.pdf
View BVdb publication page