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GAA c.130G>T ;(p.G44C)
Variant ID: 17-78078515-G-T
NM_000152.3(
GAA
):c.130G>T;(p.G44C)
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: 130G>T
PubMed Link:
37087497
Variant Present in the following documents:
42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page
Hidden Information Revealed Using the Orthogonal System of Nucleic Acids.
International Journal Of Molecular Sciences
Víglaský, Viktor V
Publication Date: 2022-02-04
Variant appearance in text: GAA: G44C
PubMed Link:
35163723
Variant Present in the following documents:
ijms-23-01804.pdf
View BVdb publication page
Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.
Plos One
Fields, Francisco R FR; Suresh, Niraja N; Hiller, Morgan M; Freed, Stefan D SD; Haldar, Kasturi K; Lee, Shaun W SW
Publication Date: 2020
Variant appearance in text: GAA: G44C
PubMed Link:
33151962
Variant Present in the following documents:
pone.0234100.s006.xlsx, sheet 2
pone.0234100.s006.xlsx, sheet 1
View BVdb publication page
Structural rearrangements linked to global folding pathways of the Azoarcus group I ribozyme.
Journal Of Molecular Biology
Chauhan, Seema S; Behrouzi, Reza R; Rangan, Prashanth P; Woodson, Sarah A SA
Publication Date: 2009-03-06
Variant appearance in text: GAA: G44C
PubMed Link:
19154736
Variant Present in the following documents:
Main text
View BVdb publication page