GAA c.1687C>T ;(p.Q563*)

Variant ID: 17-78085832-C-T

NM_000152.3(GAA):c.1687C>T;(p.Q563*)

This variant was identified in 10 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: Q563*
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: GAA: 1687C>T; Gln563Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.

Molecular Genetics And Metabolism
Mori, Mari M; Haskell, Gloria G; Kazi, Zoheb Z; Zhu, Xiaolin X; DeArmey, Stephanie M SM; Goldstein, Jennifer L JL; Bali, Deeksha D; Rehder, Catherine C; Cirulli, Elizabeth T ET; Kishnani, Priya S PS
Publication Date: 2017-12

Variant appearance in text: GAA: 1687C>T; Gln563*
PubMed Link: 29122469
Variant Present in the following documents:
  • Main text
View BVdb publication page



Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12

Variant appearance in text: GAA: Q563*
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
View BVdb publication page



CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Berrier, Kathryn L KL; Kazi, Zoheb B ZB; Prater, Sean N SN; Bali, Deeksha S DS; Goldstein, Jennifer J; Stefanescu, Mihaela C MC; Rehder, Catherine W CW; Botha, Eleanor G EG; Ellaway, Carolyn C; Bhattacharya, Kaustuv K; Tylki-Szymanska, Anna A; Karabul, Nesrin N; Rosenberg, Amy S AS; Kishnani, Priya S PS
Publication Date: 2015-11

Variant appearance in text: GAA: 1687C>T; Gln563X
PubMed Link: 25741864
Variant Present in the following documents:
  • Main text
  • nihms654429.pdf
View BVdb publication page



Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany.

Jimd Reports
Hahn, Andreas A; Praetorius, Susanne S; Karabul, Nesrin N; Dießel, Johanna J; Schmidt, Dorle D; Motz, Reinald R; Haase, Claudia C; Baethmann, Martina M; Hennermann, Julia B JB; Smitka, Martin M; Santer, René R; Muschol, Nicole N; Meyer, Ann A; Marquardt, Thorsten T; Huemer, Martina M; Thiels, Charlotte C; Rohrbach, Marianne M; Seyfullah, Gökce G; Mengel, Eugen E
Publication Date: 2015

Variant appearance in text: GAA: 1687C>T
PubMed Link: 25626711
Variant Present in the following documents:
  • Main text
View BVdb publication page



A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget
Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2014-05-30

Variant appearance in text: GAA: Q563*
PubMed Link: 24913145
Variant Present in the following documents:
  • oncotarget-05-2912-s003.xlsx, sheet 1
View BVdb publication page



Persistence of high sustained antibodies to enzyme replacement therapy despite extensive immunomodulatory therapy in an infant with Pompe disease: need for agents to target antibody-secreting plasma cells.

Molecular Genetics And Metabolism
Banugaria, Suhrad G SG; Patel, Trusha T TT; Mackey, Joanne J; Das, Stuti S; Amalfitano, Andrea A; Rosenberg, Amy S AS; Charrow, Joel J; Chen, Y-T YT; Kishnani, Priya S PS
Publication Date: 2012-04

Variant appearance in text: GAA: 1687C>T
PubMed Link: 22365055
Variant Present in the following documents:
  • Main text
View BVdb publication page



Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience.

American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics
Bali, Deeksha S DS; Goldstein, Jennifer L JL; Banugaria, Suhrad S; Dai, Jian J; Mackey, Joanne J; Rehder, Catherine C; Kishnani, Priya S PS
Publication Date: 2012-02-15

Variant appearance in text: GAA: 1687C>T; Gln563X
PubMed Link: 22252923
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants.

Molecular Genetics And Metabolism
Kishnani, Priya S PS; Goldenberg, Paula C PC; DeArmey, Stephanie L SL; Heller, James J; Benjamin, Danny D; Young, Sarah S; Bali, Deeksha D; Smith, Sue Ann SA; Li, Jennifer S JS; Mandel, Hanna H; Koeberl, Dwight D; Rosenberg, Amy A; Chen, Y-T YT
Publication Date: 2010-01

Variant appearance in text: GAA: 1687C>T
PubMed Link: 19775921
Variant Present in the following documents:
  • Main text
View BVdb publication page