APC c.539T>A ;(p.L180*)

Variant ID: 5-112116494-T-A

NM_000038.5(APC):c.539T>A;(p.L180*)

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: 539T>A; Leu180Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Overexpression of the miR-17-92 cluster in colorectal adenoma organoids causes a carcinoma-like gene expression signature.

Neoplasia (New York, N.Y.)
Martens-de Kemp, Sanne R SR; Komor, Malgorzata A MA; Hegi, Rosa R; Bolijn, Anne S AS; Tijssen, Marianne M; de Groen, Florence L M FLM; Depla, Annekatrien A; van Leerdam, Monique M; Meijer, Gerrit A GA; Fijneman, Remond J A RJA; Carvalho, Beatriz B
Publication Date: 2022-10

Variant appearance in text: APC: L180*
PubMed Link: 35872559
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Predicting the risk of asthma attacks in children, adolescents and adults: protocol for a machine learning algorithm derived from a primary care-based retrospective cohort.

Bmj Open
Hussain, Zain Z; Shah, Syed Ahmar SA; Mukherjee, Mome M; Sheikh, Aziz A
Publication Date: 2020-07-23

Variant appearance in text: APC: L180X
PubMed Link: 32709646
Variant Present in the following documents:
  • bmjopen-2019-036099.draft_revisions.pdf
View BVdb publication page