APOB c.6718A>T ;(p.K2240*)

Variant ID: 2-21233022-T-A

NM_000384.2(APOB):c.6718A>T;(p.K2240*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Nonalcoholic Lipid Accumulation and Hepatocyte Malignant Transformation.

Journal Of Clinical And Translational Hepatology
Gu, Juanjuan J; Yao, Min M; Yao, Dengbing D; Wang, Li L; Yang, Xuli X; Yao, Dengfu D
Publication Date: 2016-06-28

Variant appearance in text: APOB: 6718A>T; K2240X
PubMed Link: 27350942
Variant Present in the following documents:
  • Main text
  • JCTH-4-123.pdf
View BVdb publication page



Hepatocellular carcinoma in nonalcoholic fatty liver: role of environmental and genetic factors.

World Journal Of Gastroenterology
Dongiovanni, Paola P; Romeo, Stefano S; Valenti, Luca L
Publication Date: 2014-09-28

Variant appearance in text: APOB: 6718A>T; K2240X
PubMed Link: 25278690
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrated analysis of mutation data from various sources identifies key genes and signaling pathways in hepatocellular carcinoma.

Plos One
Zhang, Yuannv Y; Qiu, Zhaoping Z; Wei, Lin L; Tang, Ruqi R; Lian, Baofeng B; Zhao, Yingjun Y; He, Xianghuo X; Xie, Lu L
Publication Date: 2014

Variant appearance in text: APOB: K2240X
PubMed Link: 24988079
Variant Present in the following documents:
  • Main text
  • pone.0100854.pdf
View BVdb publication page



A novel APOB mutation identified by exome sequencing cosegregates with steatosis, liver cancer, and hypocholesterolemia.

Arteriosclerosis, Thrombosis, And Vascular Biology
Cefalù, Angelo B AB; Pirruccello, James P JP; Noto, Davide D; Gabriel, Stacey S; Valenti, Vincenza V; Gupta, Namrata N; Spina, Rossella R; Tarugi, Patrizia P; Kathiresan, Sekar S; Averna, Maurizio R MR
Publication Date: 2013-08

Variant appearance in text: APOB: 6718A>T; K2240X
PubMed Link: 23723369
Variant Present in the following documents:
  • Main text
View BVdb publication page