GAA c.1845G>A ;(p.G615=)

Variant ID: 17-78086467-G-A

NM_000152.3(GAA):c.1845G>A;(p.G615=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: 1845G>A
PubMed Link: 33115981
Variant Present in the following documents:
  • molce-43-889_Supple.xlsx, sheet 1
View BVdb publication page



CRISPR-Cas9 generated Pompe knock-in murine model exhibits early-onset hypertrophic cardiomyopathy and skeletal muscle weakness.

Scientific Reports
Huang, Jeffrey Y JY; Kan, Shih-Hsin SH; Sandfeld, Emilie K EK; Dalton, Nancy D ND; Rangel, Anthony D AD; Chan, Yunghang Y; Davis-Turak, Jeremy J; Neumann, Jon J; Wang, Raymond Y RY
Publication Date: 2020-06-25

Variant appearance in text: GAA: 1845G>A
PubMed Link: 32587263
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_65259.pdf
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: 1845G>A
PubMed Link: 28202015
Variant Present in the following documents:
  • 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page