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RUNX2 c.748_750delinsAAC ;(p.G250N)
Variant ID: 6-45459740-GGG-AAC
NM_001024630.3(
RUNX2
):c.748_750delinsAAC;(p.G250N)
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:
The chaperonin containing TCP1 complex (CCT/TRiC) is involved in mediating sperm-oocyte interaction.
The Journal Of Biological Chemistry
Dun, Matthew D MD; Smith, Nathan D ND; Baker, Mark A MA; Lin, Minjie M; Aitken, R John RJ; Nixon, Brett B
Publication Date: 2011-10-21
Variant appearance in text: CCD: G250n
PubMed Link:
21880732
Variant Present in the following documents:
Main text
View BVdb publication page