RUNX2 c.805_807delinsGAG ;(p.S269E)

Variant ID: 6-45459797-TCC-GAG

NM_001024630.3(RUNX2):c.805_807delinsGAG;(p.S269E)

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:

Regulating peroxisome-ER contacts via the ACBD5-VAPB tether by FFAT motif phosphorylation and GSK3β.

The Journal Of Cell Biology
Kors, Suzan S; Hacker, Christian C; Bolton, Chloe C; Maier, Renate R; Reimann, Lena L; Kitchener, Emily J A EJA; Warscheid, Bettina B; Costello, Joseph L JL; Schrader, Michael M
Publication Date: 2022-03-07

Variant appearance in text: CCD: S269E
PubMed Link: 35019937
Variant Present in the following documents:
  • Main text
View BVdb publication page


Regulating peroxisome-ER contacts via the ACBD5-VAPB tether by FFAT motif phosphorylation and GSK3β.

The Journal Of Cell Biology
Kors, Suzan S; Hacker, Christian C; Bolton, Chloe C; Maier, Renate R; Reimann, Lena L; Kitchener, Emily J A EJA; Warscheid, Bettina B; Costello, Joseph L JL; Schrader, Michael M
Publication Date: 2022-03-07

Variant appearance in text: CCD: S269E
PubMed Link: 35019937
Variant Present in the following documents:
  • Main text
View BVdb publication page