GAA c.701C>A ;(p.T234K)

Variant ID: 17-78081364-C-A

NM_000152.3(GAA):c.701C>A;(p.T234K)

This variant was identified in 5 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: 701C>A; T234K
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.

Human Mutation
Reuser, Arnold J J AJJ; van der Ploeg, Ans T AT; Chien, Yin-Hsiu YH; Llerena, Juan J; Abbott, Mary-Alice MA; Clemens, Paula R PR; Kimonis, Virginia E VE; Leslie, Nancy N; Maruti, Sonia S SS; Sanson, Bernd-Jan BJ; Araujo, Roberto R; Periquet, Magali M; Toscano, Antonio A; Kishnani, Priya S PS; On Behalf Of The Pompe Registry Sites,
Publication Date: 2019-11

Variant appearance in text: GAA: 701C>A; Thr234Lys
PubMed Link: 31342611
Variant Present in the following documents:
  • HUMU-40-2146-s001.pdf
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: GAA: T234K
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page



Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study.

Orphanet Journal Of Rare Diseases
de Vries, Juna M JM; van der Beek, Nadine A M E NA; Hop, Wim C J WC; Karstens, Francois P J FP; Wokke, John H JH; de Visser, Marianne M; van Engelen, Baziel G M BG; Kuks, Jan B M JB; van der Kooi, Anneke J AJ; Notermans, Nicolette C NC; Faber, Catharina G CG; Verschuuren, Jan J G M JJ; Kruijshaar, Michelle E ME; Reuser, Arnold J J AJ; van Doorn, Pieter A PA; van der Ploeg, Ans T AT
Publication Date: 2012-09-26

Variant appearance in text: GAA: 701C>A
PubMed Link: 23013746
Variant Present in the following documents:
  • 1750-1172-7-73.pdf
View BVdb publication page



A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.

Orphanet Journal Of Rare Diseases
Herzog, Andreas A; Hartung, Ralf R; Reuser, Arnold J J AJ; Hermanns, Pia P; Runz, Heiko H; Karabul, Nesrin N; Gökce, Seyfullah S; Pohlenz, Joachim J; Kampmann, Christoph C; Lampe, Christina C; Beck, Michael M; Mengel, Eugen E
Publication Date: 2012-06-07

Variant appearance in text: GAA: 701C>A; Thr234Lys
PubMed Link: 22676651
Variant Present in the following documents:
  • Main text
  • 1750-1172-7-35.pdf
View BVdb publication page