GAA c.229G>A ;(p.A77T)

Variant ID: 17-78078614-G-A

NM_000152.3(GAA):c.229G>A;(p.A77T)

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: 229G>A
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.

Journal Of Neurology, Neurosurgery, And Psychiatry
Grunseich, Christopher C; Sarkar, Nathan N; Lu, Joyce J; Owen, Mallory M; Schindler, Alice A; Calabresi, Peter A PA; Sumner, Charlotte J CJ; Roda, Ricardo H RH; Chaudhry, Vinay V; Lloyd, Thomas E TE; Crawford, Thomas O TO; Subramony, S H SH; Oh, Shin J SJ; Richardson, Perry P; Tanji, Kurenai K; Kwan, Justin Y JY; Fischbeck, Kenneth H KH; Mankodi, Ami A
Publication Date: 2021-11

Variant appearance in text: GAA: 229G>A; A77T
PubMed Link: 34103343
Variant Present in the following documents:
  • jnnp-2020-325437supp002.pdf
View BVdb publication page



Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.

Journal Of Neurology, Neurosurgery, And Psychiatry
Grunseich, Christopher C; Sarkar, Nathan N; Lu, Joyce J; Owen, Mallory M; Schindler, Alice A; Calabresi, Peter A PA; Sumner, Charlotte J CJ; Roda, Ricardo H RH; Chaudhry, Vinay V; Lloyd, Thomas E TE; Crawford, Thomas O TO; Subramony, S H SH; Oh, Shin J SJ; Richardson, Perry P; Tanji, Kurenai K; Kwan, Justin Y JY; Fischbeck, Kenneth H KH; Mankodi, Ami A
Publication Date: 2021-11

Variant appearance in text: GAA: 229G>A; A77T
PubMed Link: 34103343
Variant Present in the following documents:
  • jnnp-2020-325437supp002.pdf
View BVdb publication page



Development and application of a transcriptional sensor for detection of heterologous acrylic acid production in E. coli.

Microbial Cell Factories
Raghavan, Sarada S SS; Chee, Sharon S; Li, Juntao J; Poschmann, Jeremie J; Nagarajan, Niranjan N; Jia Wei, Siau S; Verma, Chandra S CS; Ghadessy, Farid J FJ
Publication Date: 2019-08-19

Variant appearance in text: GAA: A77T
PubMed Link: 31426802
Variant Present in the following documents:
  • 12934_2019_Article_1185.pdf
View BVdb publication page



Landscape of genomic diversity and host adaptation in Fusarium graminearum.

Bmc Genomics
Laurent, Benoit B; Moinard, Magalie M; Spataro, Cathy C; Ponts, Nadia N; Barreau, Christian C; Foulongne-Oriol, Marie M
Publication Date: 2017-02-23

Variant appearance in text: GAA: 229G>A
PubMed Link: 28231761
Variant Present in the following documents:
  • 12864_2017_3524_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Mitochondrial iron-sulfur cluster biogenesis from molecular understanding to clinical disease.

Neurosciences (Riyadh, Saudi Arabia)
Alfadhel, Majid M; Nashabat, Marwan M; Abu Ali, Qais Q; Hundallah, Khalid K
Publication Date: 2017-01

Variant appearance in text: GAA: 229G>A
PubMed Link: 28064324
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome and phylogenetic analyses of Trypanosoma evansi reveal extensive similarity to T. brucei and multiple independent origins for dyskinetoplasty.

Plos Neglected Tropical Diseases
Carnes, Jason J; Anupama, Atashi A; Balmer, Oliver O; Jackson, Andrew A; Lewis, Michael M; Brown, Rob R; Cestari, Igor I; Desquesnes, Marc M; Gendrin, Claire C; Hertz-Fowler, Christiane C; Imamura, Hideo H; Ivens, Alasdair A; Kořený, Luděk L; Lai, De-Hua DH; MacLeod, Annette A; McDermott, Suzanne M SM; Merritt, Chris C; Monnerat, Severine S; Moon, Wonjong W; Myler, Peter P; Phan, Isabelle I; Ramasamy, Gowthaman G; Sivam, Dhileep D; Lun, Zhao-Rong ZR; Lukeš, Julius J; Stuart, Ken K; Schnaufer, Achim A
Publication Date: 2015-01

Variant appearance in text: GAA: Ala77Thr
PubMed Link: 25568942
Variant Present in the following documents:
  • pntd.0003404.s019.xlsx, sheet 1
View BVdb publication page



Genomic structure and variation of nuclear factor (erythroid-derived 2)-like 2.

Oxidative Medicine And Cellular Longevity
Cho, Hye-Youn HY
Publication Date: 2013

Variant appearance in text: GAA: 229G>A
PubMed Link: 23936606
Variant Present in the following documents:
  • Main text
  • OXIMED2013-286524.pdf
View BVdb publication page