GAA c.1482A>G ;(p.T494=)

Variant ID: 17-78084570-A-G

NM_000152.3(GAA):c.1482A>G;(p.T494=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genetic Modifiers of Hereditary Neuromuscular Disorders and Cardiomyopathy.

Cells
Bazrafshan, Sholeh S; Kushlaf, Hani H; Kakroo, Mashhood M; Quinlan, John J; Becker, Richard C RC; Sadayappan, Sakthivel S
Publication Date: 2021-02-08

Variant appearance in text: GAA: 1482A>G; Thr494=
PubMed Link: 33567613
Variant Present in the following documents:
  • Main text
  • cells-10-00349.pdf
View BVdb publication page



K-Ras-Activated Cells Can Develop into Lung Tumors When Runx3-Mediated Tumor Suppressor Pathways Are Abrogated.

Molecules And Cells
Lee, You-Soub YS; Lee, Ja-Yeol JY; Song, Soo-Hyun SH; Kim, Da-Mi DM; Lee, Jung-Won JW; Chi, Xin-Zi XZ; Ito, Yoshiaki Y; Bae, Suk-Chul SC
Publication Date: 2020-10-31

Variant appearance in text: GAA: 1482A>G
PubMed Link: 33115981
Variant Present in the following documents:
  • molce-43-889_Supple.xlsx, sheet 1
View BVdb publication page



Variant discovery in the sheep milk transcriptome using RNA sequencing.

Bmc Genomics
Suárez-Vega, Aroa A; Gutiérrez-Gil, Beatriz B; Klopp, Christophe C; Tosser-Klopp, Gwenola G; Arranz, Juan José JJ
Publication Date: 2017-02-15

Variant appearance in text: GAA: 1482A>G; Thr494Thr
PubMed Link: 28202015
Variant Present in the following documents:
  • 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page