GC c.968T>C ;(p.L323P)

Variant ID: 4-72622495-A-G

NM_000583.3(GC):c.968T>C;(p.L323P)

This variant was identified in 8 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: GC: 968T>C; L323P
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
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: GC: 968T>C
PubMed Link: 36271293
Variant Present in the following documents:
  • 42003_2022_4087_MOESM4_ESM.xlsx, sheet 3
  • 42003_2022_4087_MOESM4_ESM.xlsx, sheet 4
View BVdb publication page



Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.

Human Mutation
Abdelkreem, Elsayed E; Harijan, Rajesh K RK; Yamaguchi, Seiji S; Wierenga, Rikkert K RK; Fukao, Toshiyuki T
Publication Date: 2019-10

Variant appearance in text: GC: 968T>C
PubMed Link: 31268215
Variant Present in the following documents:
  • HUMU-40-1641-s001.pdf
View BVdb publication page



Loss of Dnmt3a Immortalizes Hematopoietic Stem Cells In Vivo.

Cell Reports
Jeong, Mira M; Park, Hyun Jung HJ; Celik, Hamza H; Ostrander, Elizabeth L EL; Reyes, Jaime M JM; Guzman, Anna A; Rodriguez, Benjamin B; Lei, Yong Y; Lee, Yeojin Y; Ding, Lei L; Guryanova, Olga A OA; Li, Wei W; Goodell, Margaret A MA; Challen, Grant A GA
Publication Date: 2018-04-03

Variant appearance in text: GC: 968T>C
PubMed Link: 29617651
Variant Present in the following documents:
  • NIHMS958971-supplement-5.xlsx, sheet 2
View BVdb publication page



Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21

Variant appearance in text: GC: 968T>C; L323P
PubMed Link: 29245897
Variant Present in the following documents:
  • oncotarget-08-99237-s002.xlsx, sheet 1
View BVdb publication page



Comparative Genomics of Two Sequential Candida glabrata Clinical Isolates.

G3 (Bethesda, Md.)
Vale-Silva, Luis L; Beaudoing, Emmanuel E; Tran, Van Du T VDT; Sanglard, Dominique D
Publication Date: 2017-08-07

Variant appearance in text: GC: 968T>C
PubMed Link: 28663342
Variant Present in the following documents:
  • 2413FileS2.xlsx, sheet 1
View BVdb publication page



Variant discovery in the sheep milk transcriptome using RNA sequencing.

Bmc Genomics
Suárez-Vega, Aroa A; Gutiérrez-Gil, Beatriz B; Klopp, Christophe C; Tosser-Klopp, Gwenola G; Arranz, Juan José JJ
Publication Date: 2017-02-15

Variant appearance in text: GC: 968T>C
PubMed Link: 28202015
Variant Present in the following documents:
  • 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Five novel glucose-6-phosphate dehydrogenase deficiency haplotypes correlating with disease severity.

Journal Of Translational Medicine
Dallol, Ashraf A; Banni, Huda H; Gari, Mamdooh A MA; Al-Qahtani, Mohammed H MH; Abuzenadeh, Adel M AM; Al-Sayes, Fatin F; Chaudhary, Adeel G AG; Bidwell, Jeffrey J; Kafienah, Wael W
Publication Date: 2012-09-24

Variant appearance in text: GC: Leu323Pro
PubMed Link: 23006493
Variant Present in the following documents:
  • Main text
  • 1479-5876-10-199.pdf
View BVdb publication page