GAA c.485A>G ;(p.K162R)

Variant ID: 17-78078870-A-G

NM_000152.3(GAA):c.485A>G;(p.K162R)

This variant was identified in 7 publications

View GRCh38 version.




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: 485A>G
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.

Functional & Integrative Genomics
Alkhamis, Fahad A FA; Alabdali, Majed M MM; Alsulaiman, Abdulla A AA; Alamri, Abdullah S AS; Alali, Rudaynah R; Akhtar, Mohammed S MS; Alsalman, Sadiq A SA; Cyrus, Cyril C; Albakr, Aishah I AI; Alduhalan, Anas S AS; Gandla, Divya D; Al-Romaih, Khaldoun K; Abouelhoda, Mohamed M; Loza, Bao-Li BL; Keating, Brendan B; Al-Ali, Amein K AK
Publication Date: 2023-03-27

Variant appearance in text: GAA: 485A>G; Lys162Arg; rs1205319348
PubMed Link: 36973604
Variant Present in the following documents:
  • 10142_2023_1039_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Rickettsia felis DNA recovered from a child who lived in southern Africa 2000 years ago.

Communications Biology
Rifkin, Riaan F RF; Vikram, Surendra S; Alcorta, Jaime J; Ramond, Jean-Baptiste JB; Cowan, Don A DA; Jakobsson, Mattias M; Schlebusch, Carina M CM; Lombard, Marlize M
Publication Date: 2023-03-03

Variant appearance in text: GAA: Lys162Arg
PubMed Link: 36869137
Variant Present in the following documents:
  • 42003_2023_4582_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



Genomic evolution towards azole resistance in Candida glabrata clinical isolates unveils the importance of CgHxt4/6/7 in azole accumulation.

Communications Biology
Galocha, Mónica M; Viana, Romeu R; Pais, Pedro P; Silva-Dias, Ana A; Cavalheiro, Mafalda M; Miranda, Isabel M IM; Van Ende, Mieke M; Souza, Caio S CS; Costa, Catarina C; Branco, Joana J; Soares, Cláudio M CM; Van Dijck, Patrick P; Rodrigues, Acácio G AG; Teixeira, Miguel C MC
Publication Date: 2022-10-21

Variant appearance in text: GAA: 485A>G
PubMed Link: 36271293
Variant Present in the following documents:
  • 42003_2022_4087_MOESM4_ESM.xlsx, sheet 6
  • 42003_2022_4087_MOESM4_ESM.xlsx, sheet 5
View BVdb publication page



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: GAA: K162R
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Genome scale analysis of pathogenic variants targetable for single base editing.

Bmc Medical Genomics
Lavrov, Alexander V AV; Varenikov, Georgi G GG; Skoblov, Mikhail Yu MY
Publication Date: 2020-09-18

Variant appearance in text: GAA: 485A>G
PubMed Link: 32948190
Variant Present in the following documents:
  • 12920_2020_735_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Human TPX2 is required for targeting Aurora-A kinase to the spindle.

The Journal Of Cell Biology
Kufer, Thomas A TA; Silljé, Herman H W HH; Körner, Roman R; Gruss, Oliver J OJ; Meraldi, Patrick P; Nigg, Erich A EA
Publication Date: 2002-08-19

Variant appearance in text: GAA: K162R
PubMed Link: 12177045
Variant Present in the following documents:
  • Main text
View BVdb publication page