RUNX2 c.1048_1049delinsGC ;(p.C350A)

Variant ID: 6-45512980-TG-GC

NM_001024630.3(RUNX2):c.1048_1049delinsGC;(p.C350A)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Membrane tethering by the atlastin GTPase depends on GTP hydrolysis but not on forming the cross-over configuration.

Molecular Biology Of The Cell
Saini, Simran G SG; Liu, Chuang C; Zhang, Peijun P; Lee, Tina H TH
Publication Date: 2014-12-01

Variant appearance in text: CCD: C350A
PubMed Link: 25253720
Variant Present in the following documents:
  • Main text
  • 3942.pdf
View BVdb publication page