CACNA1A c.995G>A ;(p.G332E)

Variant ID: 19-13446707-C-T

NM_001127222.1(CACNA1A):c.995G>A;(p.G332E)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Relapse timing is associated with distinct evolutionary dynamics in DLBCL.

Medrxiv : The Preprint Server For Health Sciences
Hilton, Laura K LK; Ngu, Henry S HS; Collinge, Brett B; Dreval, Kostiantyn K; Ben-Neriah, Susana S; Rushton, Christopher K CK; Wong, Jasper C H JCH; Cruz, Manuela M; Roth, Andrew A; Boyle, Merrill M; Meissner, Barbara B; Slack, Graham W GW; Farinha, Pedro P; Craig, Jeffrey W JW; Gerrie, Alina S AS; Freeman, Ciara L CL; Villa, Diego D; Crump, Michael M; Shepherd, Lois L; Hay, Annette E AE; Kuruvilla, John J; Savage, Kerry J KJ; Kridel, Robert R; Karsan, Aly A; Marra, Marco A MA; Sehn, Laurie H LH; Steidl, Christian C; Morin, Ryan D RD; Scott, David W DW
Publication Date: 2023-03-08

Variant appearance in text: CACNA1A: 995G>A; Gly332Glu
PubMed Link: 36945587
Variant Present in the following documents:
  • media-1.xlsx, sheet 14
View BVdb publication page



Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases.

American Journal Of Human Genetics
Pey, Angel L AL; Stricher, Francois F; Serrano, Luis L; Martinez, Aurora A
Publication Date: 2007-11

Variant appearance in text: MHP: G332E
PubMed Link: 17924342
Variant Present in the following documents:
  • Main text
View BVdb publication page