GAA c.1018T>C ;(p.Y340H)

Variant ID: 17-78082151-T-C

NM_000152.3(GAA):c.1018T>C;(p.Y340H)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Endothelial alpha globin is a nitrite reductase.

Nature Communications
Keller, T C Stevenson TCS; Lechauve, Christophe C; Keller, Alexander S AS; Broseghini-Filho, Gilson Brás GB; Butcher, Joshua T JT; Askew Page, Henry R HR; Islam, Aditi A; Tan, Zhe Yin ZY; DeLalio, Leon J LJ; Brooks, Steven S; Sharma, Poonam P; Hong, Kwangseok K; Xu, Wenhao W; Padilha, Alessandra Simão AS; Ruddiman, Claire A CA; Best, Angela K AK; Macal, Edgar E; Kim-Shapiro, Daniel B DB; Christ, George G; Yan, Zhen Z; Cortese-Krott, Miriam M MM; Ricart, Karina K; Patel, Rakesh R; Bender, Timothy P TP; Sonkusare, Swapnil K SK; Weiss, Mitchell J MJ; Ackerman, Hans H; Columbus, Linda L; Isakson, Brant E BE
Publication Date: 2022-10-27

Variant appearance in text: GAA: 1018T>C
PubMed Link: 36302779
Variant Present in the following documents:
  • 41467_2022_34154_MOESM3_ESM.xlsx, sheet 10
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: GAA: 1018T>C
PubMed Link: 28663342
Variant Present in the following documents:
  • 2413FileS2.xlsx, sheet 1
View BVdb publication page



A novel mutant of the Sup35 protein of Saccharomyces cerevisiae defective in translation termination and in GTPase activity still supports cell viability.

Bmc Molecular Biology
Fabret, Céline C; Cosnier, Bruno B; Lekomtsev, Sergey S; Gillet, Sylvie S; Hatin, Isabelle I; Le Maréchal, Pierre P; Rousset, Jean Pierre JP
Publication Date: 2008-02-11

Variant appearance in text: GAA: Y340H
PubMed Link: 18267004
Variant Present in the following documents:
  • Main text
  • 1471-2199-9-22.pdf
View BVdb publication page