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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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