APC c.1111G>T ;(p.G371*)

Variant ID: 5-112154840-G-T

NM_000038.5(APC):c.1111G>T;(p.G371*)

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: 1111G>T; Gly371Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



A Specific Mutational Signature Associated with DNA 8-Oxoguanine Persistence in MUTYH-defective Colorectal Cancer.

Ebiomedicine
Viel, Alessandra A; Bruselles, Alessandro A; Meccia, Ettore E; Fornasarig, Mara M; Quaia, Michele M; Canzonieri, Vincenzo V; Policicchio, Eleonora E; Urso, Emanuele Damiano ED; Agostini, Marco M; Genuardi, Maurizio M; Lucci-Cordisco, Emanuela E; Venesio, Tiziana T; Martayan, Aline A; Diodoro, Maria Grazia MG; Sanchez-Mete, Lupe L; Stigliano, Vittoria V; Mazzei, Filomena F; Grasso, Francesca F; Giuliani, Alessandro A; Baiocchi, Marta M; Maestro, Roberta R; Giannini, Giuseppe G; Tartaglia, Marco M; Alexandrov, Ludmil B LB; Bignami, Margherita M
Publication Date: 2017-06

Variant appearance in text: APC: 1111G>T; Gly371Ter
PubMed Link: 28551381
Variant Present in the following documents:
  • mmc7.pdf
View BVdb publication page



Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects.

Bmc Medical Genetics
Stekrova, Jitka J; Sulova, Martina M; Kebrdlova, Vera V; Zidkova, Katerina K; Kotlas, Jaroslav J; Ilencikova, Denisa D; Vesela, Kamila K; Kohoutova, Milada M
Publication Date: 2007-04-05

Variant appearance in text: APC: 1111G>T; Gly371X
PubMed Link: 17411426
Variant Present in the following documents:
  • Main text
  • 1471-2350-8-16.pdf
View BVdb publication page