AKAP9 c.1924G>A ;(p.E642K)

Variant ID: 7-91631155-G-A

NM_005751.4(AKAP9):c.1924G>A;(p.E642K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The mutational repertoire of uterine sarcomas and carcinosarcomas in a Brazilian cohort: A preliminary study.

Clinics (Sao Paulo, Brazil)
da Costa, Leonardo Tomiatti LT; Dos Anjos, Laura Gonzalez LG; Kagohara, Luciane Tsukamoto LT; Torrezan, Giovana Tardin GT; De Paula, Claudia A Andrade CAA; Baracat, Edmund Chada EC; Carraro, Dirce Maria DM; Carvalho, Katia Candido KC
Publication Date: 2021

Variant appearance in text: AKAP9: Glu642Lys
PubMed Link: 33503190
Variant Present in the following documents:
  • cln-76-2324.pdf
View BVdb publication page



SCN1A variants associated with sudden infant death syndrome.

Epilepsia
Brownstein, Catherine A CA; Goldstein, Richard D RD; Thompson, Christopher H CH; Haynes, Robin L RL; Giles, Emma E; Sheidley, Beth B; Bainbridge, Matthew M; Haas, Elisabeth A EA; Mena, Othon J OJ; Lucas, Jonathan J; Schaber, Bethann B; Holm, Ingrid A IA; George, Alfred L AL; Kinney, Hannah C HC; Poduri, Annapurna H AH
Publication Date: 2018-04

Variant appearance in text: AKAP9: 1924G>A; Glu642Lys
PubMed Link: 29601086
Variant Present in the following documents:
  • Main text
View BVdb publication page