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GAA c.550A>C ;(p.K184Q)
Variant ID: 17-78079551-A-C
NM_000152.3(
GAA
):c.550A>C;(p.K184Q)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Prevalence and potential genetic determinants of young sudden unexplained death victims with suspected arrhythmogenic mitral valve prolapse syndrome.
Heart Rhythm O2
Giudicessi, John R JR; Maleszewski, Joseph J JJ; Tester, David J DJ; Ackerman, Michael J MJ
Publication Date: 2021-10
Variant appearance in text: GAA: K184Q
PubMed Link:
34667957
Variant Present in the following documents:
main.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: 550A>C
PubMed Link:
33115981
Variant Present in the following documents:
molce-43-889_Supple.xlsx, sheet 1
View BVdb publication page