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GAA c.2172C>T ;(p.A724=)
Variant ID: 17-78087148-C-T
NM_000152.3(
GAA
):c.2172C>T;(p.A724=)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.
Communications Biology
Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G
Publication Date: 2023-04-22
Variant appearance in text: GAA: 2172C>T
PubMed Link:
37087497
Variant Present in the following documents:
42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
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: 2172C>T
PubMed Link:
33115981
Variant Present in the following documents:
molce-43-889_Supple.xlsx, sheet 1
View BVdb publication page
A De Novo Mutation in DYRK1A Causes Syndromic Intellectual Disability: A Chinese Case Report.
Frontiers In Genetics
Qiao, Fengchang F; Shao, Binbin B; Wang, Chen C; Wang, Yan Y; Zhou, Ran R; Liu, Gang G; Meng, Lulu L; Hu, Ping P; Xu, Zhengfeng Z
Publication Date: 2019
Variant appearance in text: GAA: Ala724Ala
PubMed Link:
31803247
Variant Present in the following documents:
DataSheet_2.pdf
View BVdb publication page
Codon bias and the folding dynamics of the cystic fibrosis transmembrane conductance regulator.
Cellular & Molecular Biology Letters
Bartoszewski, Rafal R; Króliczewski, Jaroslaw J; Piotrowski, Arkadiusz A; Jasiecka, Anna Janaszak AJ; Bartoszewska, Sylwia S; Vecchio-Pagan, Briana B; Fu, Lianwu L; Sobolewska, Aleksandra A; Matalon, Sadis S; Cutting, Garry R GR; Rowe, Steven M SM; Collawn, James F JF
Publication Date: 2016
Variant appearance in text: GAA: 2172C>T
PubMed Link:
28536625
Variant Present in the following documents:
11658_2016_25_MOESM3_ESM.xlsx, sheet 1
11658_2016_25_MOESM6_ESM.xlsx, sheet 1
11658_2016_25_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page