PRRT2 c.85G>A ;(p.E29K)

Variant ID: 16-29824460-G-A

NM_145239.2(PRRT2):c.85G>A;(p.E29K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.

Epilepsia Open
Truty, Rebecca R; Patil, Nila N; Sankar, Raman R; Sullivan, Joseph J; Millichap, John J; Carvill, Gemma G; Entezam, Ali A; Esplin, Edward D ED; Fuller, Amy A; Hogue, Michelle M; Johnson, Britt B; Khouzam, Amirah A; Kobayashi, Yuya Y; Lewis, Rachel R; Nykamp, Keith K; Riethmaier, Darlene D; Westbrook, Jody J; Zeman, Michelle M; Nussbaum, Robert L RL; Aradhya, Swaroop S
Publication Date: 2019-09

Variant appearance in text: PRRT2: 85G>A; Glu29Lys
PubMed Link: 31440721
Variant Present in the following documents:
  • EPI4-4-397-s003.xlsx, sheet 1
View BVdb publication page



CCK activates RhoA and Rac1 differentially through Galpha13 and Galphaq in mouse pancreatic acini.

American Journal Of Physiology. Cell Physiology
Sabbatini, Maria E ME; Bi, Yan Y; Ji, Baoan B; Ernst, Stephen A SA; Williams, John A JA
Publication Date: 2010-03

Variant appearance in text: PKC: E29K
PubMed Link: 19940064
Variant Present in the following documents:
  • Main text
View BVdb publication page