PC c.248_249delinsAG ;(p.A83E)

Variant ID: 11-66639230-GG-CT

NM_001040716.1(PC):c.248_249delinsAG;(p.A83E)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


A generalizable machine learning framework for classifying DNA repair defects using ctDNA exomes.

Npj Precision Oncology
Ritch, Elie J EJ; Herberts, Cameron C; Warner, Evan W EW; Ng, Sarah W S SWS; Kwan, Edmond M EM; Bacon, Jack V W JVW; Bernales, Cecily Q CQ; Schönlau, Elena E; Fonseca, Nicolette M NM; Giri, Veda N VN; Maurice-Dror, Corinne C; Vandekerkhove, Gillian G; Jones, Steven J M SJM; Chi, Kim N KN; Wyatt, Alexander W AW
Publication Date: 2023-03-13

Variant appearance in text: PC: A83E
PubMed Link: 36914848
Variant Present in the following documents:
  • 41698_2023_366_MOESM2_ESM.xlsx, sheet 4
View BVdb publication page



Germline soma communication mediated by gap junction proteins regulates epithelial morphogenesis.

Plos Genetics
Sahu, Aresh A; Karmakar, Susnata S; Halder, Sudipta S; Ghosh, Gaurab G; Acharjee, Sayan S; Dasgupta, Purbasa P; Ghosh, Ritabrata R; Deshpande, Girish G; Prasad, Mohit M
Publication Date: 2021-08

Variant appearance in text: PC: A83E
PubMed Link: 34343194
Variant Present in the following documents:
  • Main text
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: PC: A83E
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Taxonomic revision of the New World members of the trapdoor spider genus Ummidia Thorell (Araneae, Mygalomorphae, Halonoproctidae).

Zookeys
Godwin, Rebecca L RL; Bond, Jason E JE
Publication Date: 2021

Variant appearance in text: PC: A83E
PubMed Link: 33867800
Variant Present in the following documents:
  • Main text
View BVdb publication page



Delimitation, new species and teleomorph-anamorph relationships in Codinaea, Dendrophoma, Paragaeumannomyces and Striatosphaeria (Chaetosphaeriaceae).

Mycokeys
Réblová, Martina M; Nekvindová, Jana J; Fournier, Jacques J; Miller, Andrew N AN
Publication Date: 2020

Variant appearance in text: PC: A83E
PubMed Link: 33149721
Variant Present in the following documents:
  • Main text
View BVdb publication page



On some squat lobsters from India (Decapoda, Anomura, Munididae), with description of a new species of Paramunida Baba, 1988.

Zookeys
Macpherson, Enrique E; Chan, Tin-Yam TY; Kumar, Appukuttannair Biju AB; Rodríguez-Flores, Paula C PC
Publication Date: 2020

Variant appearance in text: PC: A83E
PubMed Link: 32973379
Variant Present in the following documents:
  • Main text
View BVdb publication page



JNK-mediated disruption of bile acid homeostasis promotes intrahepatic cholangiocarcinoma.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Manieri, Elisa E; Folgueira, Cintia C; Rodríguez, María Elena ME; Leiva-Vega, Luis L; Esteban-Lafuente, Laura L; Chen, Chaobo C; Cubero, Francisco Javier FJ; Barrett, Tamera T; Cavanagh-Kyros, Julie J; Seruggia, Davide D; Rosell, Alejandro A; Sanchez-Cabo, Fátima F; Gómez, Manuel Jose MJ; Monte, Maria J MJ; G Marin, Jose J JJ; Davis, Roger J RJ; Mora, Alfonso A; Sabio, Guadalupe G
Publication Date: 2020-07-14

Variant appearance in text: PC: A83E
PubMed Link: 32601222
Variant Present in the following documents:
  • Main text
View BVdb publication page



Predicting host taxonomic information from viral genomes: A comparison of feature representations.

Plos Computational Biology
Young, Francesca F; Rogers, Simon S; Robertson, David L DL
Publication Date: 2020-05

Variant appearance in text: PC: A83E
PubMed Link: 32453718
Variant Present in the following documents:
  • Main text
View BVdb publication page