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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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