APC c.3523C>T ;(p.Q1175*)

Variant ID: 5-112174814-C-T

NM_000038.5(APC):c.3523C>T;(p.Q1175*)

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: 3523C>T; Gln1175Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Phase and context shape the function of composite oncogenic mutations.

Nature
Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS
Publication Date: 2020-06

Variant appearance in text: APC: Q1175*
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
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: Q1175X
PubMed Link: 29245953
Variant Present in the following documents:
  • oncotarget-08-99966-s003.xlsx, sheet 3
View BVdb publication page



Clinicopathological features of familial adenomatous polyposis in Korean patients.

World Journal Of Gastroenterology
Jung, Sung Min SM; Yoon, Yong Sik YS; Lim, Seok-Byeong SB; Yu, Chang Sik CS; Kim, Jin Cheon JC
Publication Date: 2016-05-07

Variant appearance in text: APC: Gln1175X
PubMed Link: 27158207
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prediction of response to anti-EGFR antibody-based therapies by multigene sequencing in colorectal cancer patients.

Bmc Cancer
Lupini, Laura L; Bassi, Cristian C; Mlcochova, Jitka J; Musa, Gentian G; Russo, Marta M; Vychytilova-Faltejskova, Petra P; Svoboda, Marek M; Sabbioni, Silvia S; Nemecek, Radim R; Slaby, Ondrej O; Negrini, Massimo M
Publication Date: 2015-10-27

Variant appearance in text: APC: Q1175X
PubMed Link: 26508446
Variant Present in the following documents:
  • 12885_2015_1752_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page