GAA c.1229C>T ;(p.S410F)

Variant ID: 17-78082530-C-T

NM_000152.3(GAA):c.1229C>T;(p.S410F)

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: 1229C>T; S410F
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



FASN multi-omic characterization reveals metabolic heterogeneity in pancreatic and prostate adenocarcinoma.

Journal Of Translational Medicine
Chianese, Ugo U; Papulino, Chiara C; Ali, Ahmad A; Ciardiello, Fortunato F; Cappabianca, Salvatore S; Altucci, Lucia L; Carafa, Vincenzo V; Benedetti, Rosaria R
Publication Date: 2023-01-17

Variant appearance in text: GAA: 1229C>T
PubMed Link: 36650542
Variant Present in the following documents:
  • 12967_2023_3874_MOESM4_ESM.xlsx, sheet 2
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: 1229C>T
PubMed Link: 36271293
Variant Present in the following documents:
  • 42003_2022_4087_MOESM4_ESM.xlsx, sheet 8
View BVdb publication page



A pilot study of assessing whole genome sequencing in newborn screening in unselected children in China.

Clinical And Translational Medicine
Jian, Min M; Wang, Xiaohong X; Sui, Yuanyuan Y; Fang, Mingyan M; Feng, Chenchen C; Huang, Yingping Y; Liu, Chunhua C; Guo, Ruidong R; Guan, Yuanning Y; Gao, Yuxiao Y; Wang, Zhiwei Z; Li, Shuli S; Cheng, Bochen B; Sun, Lina L; Cui, Fenghua F; Guo, Jia J; Zhan, Ying Y; Zhang, Guohong G; Zheng, Ling L; Su, Fengxia F; Xue, Wei W; Qian, Puyi P; Gao, Shaobo S; Chen, Jiayu J; Guan, Lingyao L; Lu, Haorong H; Kristiansen, Karsten K; Jin, Xin X; Chen, Fang F; Zhao, Yuhuan Y; Hammarström, Lennart L; Jiang, Xiaojing X; Liu, Junnian J; Gao, Ya Y
Publication Date: 2022-06

Variant appearance in text: GAA: 1229C>T
PubMed Link: 35665479
Variant Present in the following documents:
  • CTM2-12-e843.pdf
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: S410F
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page