SI c.280_281delinsGC ;(p.C94A)

Variant ID: 3-164786958-CA-GC

NM_001041.3(SI):c.280_281delinsGC;(p.C94A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Endoplasmic reticulum chaperones stabilize ligand-receptive MR1 molecules for efficient presentation of metabolite antigens.

Proceedings Of The National Academy Of Sciences Of The United States Of America
McWilliam, Hamish E G HEG; Mak, Jeffrey Y W JYW; Awad, Wael W; Zorkau, Matthew M; Cruz-Gomez, Sebastian S; Lim, Hui Jing HJ; Yan, Yuting Y; Wormald, Sam S; Dagley, Laura F LF; Eckle, Sidonia B G SBG; Corbett, Alexandra J AJ; Liu, Haiyin H; Li, Shihan S; Reddiex, Scott J J SJJ; Mintern, Justine D JD; Liu, Ligong L; McCluskey, James J; Rossjohn, Jamie J; Fairlie, David P DP; Villadangos, Jose A JA
Publication Date: 2020-10-06

Variant appearance in text: SI: C94A
PubMed Link: 32958637
Variant Present in the following documents:
  • Main text
View BVdb publication page



Efficient IgM assembly and secretion require the plasma cell induced endoplasmic reticulum protein pERp1.

Proceedings Of The National Academy Of Sciences Of The United States Of America
van Anken, Eelco E; Pena, Florentina F; Hafkemeijer, Nicole N; Christis, Chantal C; Romijn, Edwin P EP; Grauschopf, Ulla U; Oorschot, Viola M J VM; Pertel, Thomas T; Engels, Sander S; Ora, Ari A; Lástun, Viorica V; Glockshuber, Rudi R; Klumperman, Judith J; Heck, Albert J R AJ; Luban, Jeremy J; Braakman, Ineke I
Publication Date: 2009-10-06

Variant appearance in text: SI: C94A
PubMed Link: 19805154
Variant Present in the following documents:
  • Main text
View BVdb publication page