AVP c.475G>A ;(p.A159T)

Variant ID: 20-3063296-C-T

NM_000490.4(AVP):c.475G>A;(p.A159T)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Whole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies.

Cancer Gene Therapy
Denisova, Evgeniya E; Westphal, Dana D; Surowy, Harald M HM; Meier, Friedegund F; Hutter, Barbara B; Reifenberger, Julia J; Rütten, Arno A; Schulz, Alexander A; Sergon, Mildred M; Ziemer, Mirjana M; Brors, Benedikt B; Betz, Regina C RC; Redler, Silke S
Publication Date: 2022-06

Variant appearance in text: AVP: A159T
PubMed Link: 34045664
Variant Present in the following documents:
  • 41417_2021_347_MOESM4_ESM.xls, sheet 5
View BVdb publication page



High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.

Ebiomedicine
Toulmonde, Maud M; Lucchesi, Carlo C; Verbeke, Stéphanie S; Crombe, Amandine A; Adam, Julien J; Geneste, Damien D; Chaire, Vanessa V; Laroche-Clary, Audrey A; Perret, Raul R; Bertucci, François F; Bertolo, Frederic F; Bianchini, Laurence L; Dadone-Montaudie, Bérengère B; Hembrough, Todd T; Sweet, Steve S; Kim, Yeoun Jin YJ; Cecchi, Fabiola F; Le Loarer, François F; Italiano, Antoine A
Publication Date: 2020-12

Variant appearance in text: AVP: 475G>A; A159T
PubMed Link: 33254023
Variant Present in the following documents:
  • mmc5.xlsx, sheet 1
View BVdb publication page



A probabilistic model to predict clinical phenotypic traits from genome sequencing.

Plos Computational Biology
Chen, Yun-Ching YC; Douville, Christopher C; Wang, Cheng C; Niknafs, Noushin N; Yeo, Grace G; Beleva-Guthrie, Violeta V; Carter, Hannah H; Stenson, Peter D PD; Cooper, David N DN; Li, Biao B; Mooney, Sean S; Karchin, Rachel R
Publication Date: 2014-09

Variant appearance in text: AVP: A159T
PubMed Link: 25188385
Variant Present in the following documents:
  • pcbi.1003825.s014.xlsx, sheet 1
View BVdb publication page



Dimerization and enzymatic activity of fungal 17beta-hydroxysteroid dehydrogenase from the short-chain dehydrogenase/reductase superfamily.

Bmc Biochemistry
Kristan, Katja K; Deluca, Dominga D; Adamski, Jerzy J; Stojan, Jure J; Rizner, Tea Lanisnik TL
Publication Date: 2005-12-16

Variant appearance in text: ADH: Ala159Thr
PubMed Link: 16359545
Variant Present in the following documents:
  • Main text
  • 1471-2091-6-28.pdf
View BVdb publication page