GC c.858del ;(p.C286Wfs*41)

Variant ID: 4-72622605-CA-C

NM_000583.3(GC):c.858del;(p.C286Wfs*41)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Monomorphic epitheliotropic intestinal T-cell lymphoma comprises morphologic and genomic heterogeneity impacting outcome.

Haematologica
Veloza, Luis L; Cavalieri, Doriane D; Missiaglia, Edoardo E; Ledoux-Pilon, Albane A; Bisig, Bettina B; Pereira, Bruno B; Bonnet, Christophe C; Poullot, Elsa E; Quintanilla-Martinez, Leticia L; Dubois, Romain R; Llamas-Gutierrez, Francisco F; Bossard, Céline C; De Wind, Roland R; Drieux, Fanny F; Fontaine, Juliette J; Parrens, Marie M; Sandrini, Jeremy J; Fataccioli, Virginie V; Delfau-Larue, Marie-Hélène MH; Daniel, Adrien A; Lhomme, Faustine F; Clément-Filliatre, Lauriane L; Lemonnier, François F; Cairoli, Anne A; Morel, Pierre P; Glaisner, Sylvie S; Joly, Bertrand B; El Yamani, Abderrazak A; Laribi, Kamel K; Bachy, Emmanuel E; Siebert, Reiner R; Vallois, David D; Gaulard, Philippe P; Tournilhac, Olivier O; De Leval, Laurence L
Publication Date: 2022-06-16

Variant appearance in text: GC: 858del
PubMed Link: 35708139
Variant Present in the following documents:
  • 2022_281226_VELOZA_SUPPL.pdf
View BVdb publication page



Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)
Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI
Publication Date: 2020

Variant appearance in text: GC: 858delT
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



Haplotype-resolved de novo assembly of the Vero cell line genome.

Npj Vaccines
Sène, Marie-Angélique MA; Kiesslich, Sascha S; Djambazian, Haig H; Ragoussis, Jiannis J; Xia, Yu Y; Kamen, Amine A AA
Publication Date: 2021-08-20

Variant appearance in text: GC: 858delT
PubMed Link: 34417462
Variant Present in the following documents:
  • 41541_2021_358_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02

Variant appearance in text: GC: 858delT
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL.

Genes
Downes, Susan M SM; Nguyen, Tham T; Tai, Vicky V; Broadgate, Suzanne S; Shah, Mital M; Al-Khuzaei, Saoud S; MacLaren, Robert E RE; Shanks, Morag M; Clouston, Penny P; Halford, Stephanie S
Publication Date: 2020-12-12

Variant appearance in text: GC: 858delT
PubMed Link: 33322828
Variant Present in the following documents:
  • genes-11-01497.pdf
View BVdb publication page



The trypanocidal benzoxaborole AN7973 inhibits trypanosome mRNA processing.

Plos Pathogens
Begolo, Daniela D; Vincent, Isabel M IM; Giordani, Federica F; Pöhner, Ina I; Witty, Michael J MJ; Rowan, Timothy G TG; Bengaly, Zakaria Z; Gillingwater, Kirsten K; Freund, Yvonne Y; Wade, Rebecca C RC; Barrett, Michael P MP; Clayton, Christine C
Publication Date: 2018-09

Variant appearance in text: GC: 858delT
PubMed Link: 30252911
Variant Present in the following documents:
  • ppat.1007315.s003.xlsx, sheet 3
View BVdb publication page