APC c.4630G>A ;(p.E1544K)

Variant ID: 5-112175921-G-A

NM_000038.5(APC):c.4630G>A;(p.E1544K)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Resectable lung lesions malignancy assessment and cancer detection by ultra-deep sequencing of targeted gene mutations in plasma cell-free DNA.

Journal Of Medical Genetics
Peng, Muyun M; Xie, Yuancai Y; Li, Xiaohua X; Qian, Youhui Y; Tu, Xiaonian X; Yao, Xumei X; Cheng, Fangsheng F; Xu, Feiyue F; Kong, Deju D; He, Bing B; Liu, Chaoyu C; Cao, Fengjun F; Yang, Haoxian H; Yu, Fenglei F; Xu, Chuanbo C; Tian, Geng G
Publication Date: 2019-10

Variant appearance in text: APC: 4630G>A; Glu1544Lys
PubMed Link: 30981987
Variant Present in the following documents:
  • jmedgenet-2018-105825supp002.xlsx, sheet 5
View BVdb publication page



Spatio-temporal mutation profiles of case-matched colorectal carcinomas and their metastases reveal unique de novo mutations in metachronous lung metastases by targeted next generation sequencing.

Molecular Cancer
Kovaleva, Valentina V; Geissler, Anna-Lena AL; Lutz, Lisa L; Fritsch, Ralph R; Makowiec, Frank F; Wiesemann, Sebastian S; Hopt, Ulrich T UT; Passlick, Bernward B; Werner, Martin M; Lassmann, Silke S
Publication Date: 2016-10-18

Variant appearance in text: APC: 4630G>A; Glu1544Lys
PubMed Link: 27756406
Variant Present in the following documents:
  • 12943_2016_549_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



AKT1 and BRAF mutations in pediatric aggressive fibromatosis.

Cancer Medicine
Meazza, Cristina C; Belfiore, Antonino A; Busico, Adele A; Settanni, Giulio G; Paielli, Nicholas N; Cesana, Luca L; Ferrari, Andrea A; Chiaravalli, Stefano S; Massimino, Maura M; Gronchi, Alessandro A; Colombo, Chiara C; Pilotti, Silvana S; Perrone, Federica F
Publication Date: 2016-06

Variant appearance in text: APC: E1544K
PubMed Link: 27062580
Variant Present in the following documents:
  • Main text
  • CAM4-5-1204.pdf
View BVdb publication page