TTN c.787T>G ;(p.S263A)

Variant ID: 2-179664341-A-C

NM_001267550.1(TTN):c.787T>G;(p.S263A)

This variant was identified in 2 publications

View GRCh38 version.




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: TMD: S263A
PubMed Link: 35019937
Variant Present in the following documents:
  • Main text
  • JCB_202003143.pdf
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: TMD: S263A
PubMed Link: 35019937
Variant Present in the following documents:
  • Main text
  • JCB_202003143.pdf
View BVdb publication page



Use of Functional Polymorphisms To Elucidate the Peptide Binding Site of TAP Complexes.

Journal Of Immunology (Baltimore, Md. : 1950)
Geng, Jie J; Pogozheva, Irina D ID; Mosberg, Henry I HI; Raghavan, Malini M
Publication Date: 2015-10-01

Variant appearance in text: TMD: S263A
PubMed Link: 26324772
Variant Present in the following documents:
  • Main text
View BVdb publication page