APC c.1605_1606del ;(p.E536Kfs*2)

Variant ID: 5-112163682-CTG-C

NM_000038.5(APC):c.1605_1606del;(p.E536Kfs*2)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: APC: 1605_1606del; Glu536fs
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



APC and MUTYH Analysis in FAP Patients: A Novel Mutation in APC Gene and Genotype-Phenotype Correlation.

Genes
D'Elia, Giovanna G; Caliendo, Gemma G; Casamassimi, Amelia A; Cioffi, Michele M; Molinari, Anna Maria AM; Vietri, Maria Teresa MT
Publication Date: 2018-06-27

Variant appearance in text: APC: 1605_1606delTG
PubMed Link: 29954149
Variant Present in the following documents:
  • Main text
  • genes-09-00322.pdf
View BVdb publication page



A novel frameshift mutation in exon 12 of the adenomatous polyposis coli gene in an Italian family with familial adenomatous polyposis and desmoid tumour.

Journal Of Molecular And Genetic Medicine : An International Journal Of Biomedical Research
Vietri, Maria Teresa MT; Teresa, Vietri Maria VM; Selvaggi, Francesco F; Francesco, Selvaggi S; De Paola, Maria Laura ML; Laura, De Paola Maria de PM; Sciaudone, Guido G; Guido, Sciaudone S; Guadagni, Ilaria I; Ilaria, Guadagni G; Parisi, Mariarita M; Mariarita, Parisi P; Pellino, Gianluca G; Gianluca, Pellino P; Molinari, Anna Maria AM; Maria, Molinari Anna MA; Cioffi, Michele M; Michele, Cioffi C
Publication Date: 2010-05-13

Variant appearance in text: APC: 1605_1606delTG
PubMed Link: 20589194
Variant Present in the following documents:
  • Main text
View BVdb publication page