APC c.1072C>T ;(p.Q358*)

Variant ID: 5-112154801-C-T

NM_000038.5(APC):c.1072C>T;(p.Q358*)

This variant was identified in 5 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: 1072C>T; Gln358Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: APC: 1072C>T; Q358*
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM9_ESM.xlsx, sheet 1
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Distinctive DNA mismatch repair and APC rare variants in African Americans with colorectal neoplasia.

Oncotarget
Ashktorab, Hassan H; Azimi, Hamed H; Varma, Sudhir S; Tavakoli, Payaam P; Nickerson, Michael L ML; Brim, Hassan H
Publication Date: 2017-11-21

Variant appearance in text: APC: Q358X
PubMed Link: 29245953
Variant Present in the following documents:
  • oncotarget-08-99966-s003.xlsx, sheet 3
View BVdb publication page



Targeted ultra-deep sequencing reveals recurrent and mutually exclusive mutations of cancer genes in blastic plasmacytoid dendritic cell neoplasm.

Oncotarget
Stenzinger, Albrecht A; Endris, Volker V; Pfarr, Nicole N; Andrulis, Mindaugas M; Jöhrens, Korinna K; Klauschen, Frederick F; Siebolts, Udo U; Wolf, Thomas T; Koch, Philipp-Sebastian PS; Schulz, Miriam M; Hartschuh, Wolfgang W; Goerdt, Sergij S; Lennerz, Jochen K JK; Wickenhauser, Claudia C; Klapper, Wolfram W; Anagnostopoulos, Ioannis I; Weichert, Wilko W
Publication Date: 2014-08-15

Variant appearance in text: APC: 1072C>T
PubMed Link: 25115387
Variant Present in the following documents:
  • oncotarget-05-6404-s001.xlsx, sheet 1
View BVdb publication page



Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations?

Bmc Medical Genetics
Gómez-Fernández, Nuria N; Castellví-Bel, Sergi S; Fernández-Rozadilla, Ceres C; Balaguer, Francesc F; Muñoz, Jenifer J; Madrigal, Irene I; Milà, Montserrat M; Graña, Begoña B; Vega, Ana A; Castells, Antoni A; Carracedo, Angel A; Ruiz-Ponte, Clara C
Publication Date: 2009-06-16

Variant appearance in text: APC: 1072C>T; Gln358X
PubMed Link: 19531215
Variant Present in the following documents:
  • Main text
  • 1471-2350-10-57.pdf
View BVdb publication page