RUNX2 c.1036_1037delinsTG ;(p.T346C)

Variant ID: 6-45512968-AC-TG

NM_001024630.3(RUNX2):c.1036_1037delinsTG;(p.T346C)

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:

Disentangling the roles of cholesterol and CD59 in intermedilysin pore formation.

Scientific Reports
Boyd, Courtney M CM; Parsons, Edward S ES; Smith, Richard A G RA; Seddon, John M JM; Ces, Oscar O; Bubeck, Doryen D
Publication Date: 2016-12-02

Variant appearance in text: CCD: T346C
PubMed Link: 27910935
Variant Present in the following documents:
  • Main text
  • srep38446.pdf
View BVdb publication page


Structural basis for recognition of the pore-forming toxin intermedilysin by human complement receptor CD59.

Cell Reports
Johnson, Steven S; Brooks, Nicholas J NJ; Smith, Richard A G RA; Lea, Susan M SM; Bubeck, Doryen D
Publication Date: 2013-05-30

Variant appearance in text: CCD: T346C
PubMed Link: 23665225
Variant Present in the following documents:
  • Main text
  • mmc2.pdf
View BVdb publication page