GAA c.514A>C ;(p.M172L)

Variant ID: 17-78078899-A-C

NM_000152.3(GAA):c.514A>C;(p.M172L)

This variant was identified in 4 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: 514A>C
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Clonal dynamics of haematopoiesis across the human lifespan.

Nature
Mitchell, Emily E; Spencer Chapman, Michael M; Williams, Nicholas N; Dawson, Kevin J KJ; Mende, Nicole N; Calderbank, Emily F EF; Jung, Hyunchul H; Mitchell, Thomas T; Coorens, Tim H H THH; Spencer, David H DH; Machado, Heather H; Lee-Six, Henry H; Davies, Megan M; Hayler, Daniel D; Fabre, Margarete A MA; Mahbubani, Krishnaa K; Abascal, Federico F; Cagan, Alex A; Vassiliou, George S GS; Baxter, Joanna J; Martincorena, Inigo I; Stratton, Michael R MR; Kent, David G DG; Chatterjee, Krishna K; Parsy, Kourosh Saeb KS; Green, Anthony R AR; Nangalia, Jyoti J; Laurenti, Elisa E; Campbell, Peter J PJ
Publication Date: 2022-06

Variant appearance in text: GAA: M172L
PubMed Link: 35650442
Variant Present in the following documents:
  • 41586_2022_4786_MOESM11_ESM.xlsx, sheet 1
View BVdb publication page



Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology
Li, Na N; Wang, Jiahong J; Zhan, Xianquan X
Publication Date: 2021

Variant appearance in text: GAA: 514A>C
PubMed Link: 34887858
Variant Present in the following documents:
  • Table_4.xlsx, sheet 1
View BVdb publication page



A novel interaction between dengue virus nonstructural protein 1 and the NS4A-2K-4B precursor is required for viral RNA replication but not for formation of the membranous replication organelle.

Plos Pathogens
Płaszczyca, Anna A; Scaturro, Pietro P; Neufeldt, Christopher John CJ; Cortese, Mirko M; Cerikan, Berati B; Ferla, Salvatore S; Brancale, Andrea A; Pichlmair, Andreas A; Bartenschlager, Ralf R
Publication Date: 2019-05

Variant appearance in text: GAA: M172L
PubMed Link: 31071189
Variant Present in the following documents:
  • Main text
  • ppat.1007736.pdf
View BVdb publication page