APC c.1312+2T>C

Variant ID: 5-112155043-T-C

NM_000038.5(APC):c.1312+2T>C

This variant was identified in 6 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: 1312+2T>C
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Longitudinal Circulating Tumor DNA Profiling in Metastatic Colorectal Cancer During Anti-EGFR Therapy.

Frontiers In Oncology
Yang, Wentao W; Zou, Jianling J; Li, Ye Y; Liu, Rujiao R; Yan, Zhengqing Z; Chen, Shiqing S; Zhao, Xiaoying X; Guo, Weijian W; Huang, Mingzhu M; Li, Wenhua W; Zhu, Xiaodong X; Chen, Zhiyu Z
Publication Date: 2022

Variant appearance in text: APC: 1312+2T>C
PubMed Link: 35280779
Variant Present in the following documents:
  • Main text
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: 1312+2T>C
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances
Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X
Publication Date: 2020-07

Variant appearance in text: APC: 1312+2T>C
PubMed Link: 32832622
Variant Present in the following documents:
  • aba1773_Data_file_S1.xlsx, sheet 2
View BVdb publication page



Identification of novel point mutations in splicing sites integrating whole-exome and RNA-seq data in myeloproliferative diseases.

Molecular Genetics & Genomic Medicine
Spinelli, Roberta R; Pirola, Alessandra A; Redaelli, Sara S; Sharma, Nitesh N; Raman, Hima H; Valletta, Simona S; Magistroni, Vera V; Piazza, Rocco R; Gambacorti-Passerini, Carlo C
Publication Date: 2013-11

Variant appearance in text: APC: 1312+2T>C
PubMed Link: 24498620
Variant Present in the following documents:
  • Main text
  • mgg30001-0246.pdf
View BVdb publication page



Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients.

Hereditary Cancer In Clinical Practice
Friedl, Waltraut W; Aretz, Stefan S
Publication Date: 2005-09-15

Variant appearance in text: APC: 1312+2T>C
PubMed Link: 20223039
Variant Present in the following documents:
  • Main text
  • 1897-4287-3-3-95.pdf
View BVdb publication page