APOB c.12016G>A ;(p.V4006I)

Variant ID: 2-21227212-C-T

NM_000384.2(APOB):c.12016G>A;(p.V4006I)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Current status of inherited pancreatic cancer.

Hereditary Cancer In Clinical Practice
Olakowski, Marek M; Bułdak, Łukasz Ł
Publication Date: 2022-06-27

Variant appearance in text: rs183117027
PubMed Link: 35761384
Variant Present in the following documents:
  • Main text
  • 13053_2022_Article_224.pdf
View BVdb publication page



Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10

Variant appearance in text: APOB: 12016G>A; Val4006Ile
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Application of expanded genetic analysis in the diagnosis of familial hypercholesterolemia in patients with very early-onset coronary artery disease.

Journal Of Translational Medicine
Cao, Ye-Xuan YX; Wu, Na-Qiong NQ; Sun, Di D; Liu, Hui-Hui HH; Jin, Jing-Lu JL; Li, Sha S; Guo, Yuan-Lin YL; Zhu, Cheng-Gang CG; Gao, Ying Y; Dong, Qiu-Ting QT; Liu, Geng G; Dong, Qian Q; Li, Jian-Jun JJ
Publication Date: 2018-12-10

Variant appearance in text: APOB: 12016G>A; Val4006Ile
PubMed Link: 30526649
Variant Present in the following documents:
  • 12967_2018_1737_MOESM1_ESM.pdf
View BVdb publication page



Exome-wide analysis identifies three low-frequency missense variants associated with pancreatic cancer risk in Chinese populations.

Nature Communications
Chang, Jiang J; Tian, Jianbo J; Zhu, Ying Y; Zhong, Rong R; Zhai, Kan K; Li, Jiaoyuan J; Ke, Juntao J; Han, QiangQiang Q; Lou, Jiao J; Chen, Wei W; Zhu, Beibei B; Shen, Na N; Zhang, Yi Y; Gong, Yajie Y; Yang, Yang Y; Zou, Danyi D; Peng, Xiating X; Zhang, Zhi Z; Zhang, Xuemei X; Huang, Kun K; Yang, Ming M; Wang, Li L; Wu, Chen C; Lin, Dongxin D; Miao, Xiaoping X
Publication Date: 2018-09-11

Variant appearance in text: APOB: Val4006Ile; rs183117027
PubMed Link: 30206226
Variant Present in the following documents:
  • Main text
  • 41467_2018_Article_6136.pdf
View BVdb publication page



Rare and common variants of APOB and PCSK9 in Korean patients with extremely low low-density lipoprotein-cholesterol levels.

Plos One
Lee, Chan Joo CJ; Lee, Yunbeom Y; Park, Sungha S; Kang, Seok-Min SM; Jang, Yangsoo Y; Lee, Ji Hyun JH; Lee, Sang-Hak SH
Publication Date: 2017

Variant appearance in text: APOB: V4006I; rs183117027
PubMed Link: 29036232
Variant Present in the following documents:
  • Main text
  • pone.0186446.pdf
View BVdb publication page



Association of MTTP gene variants with pediatric NAFLD: A candidate-gene-based analysis of single nucleotide variations in obese children.

Plos One
Dai, Dongling D; Wen, Feiqiu F; Zhou, Shaoming S; Su, Zhe Z; Liu, Guosheng G; Wang, Mingbang M; Zhou, Jianli J; He, Fusheng F
Publication Date: 2017

Variant appearance in text: APOB: 12016G>A; V4006I; rs183117027
PubMed Link: 28953935
Variant Present in the following documents:
  • pone.0185396.s001.xls, sheet 1
  • pone.0185396.s001.xls, sheet 7
  • pone.0185396.s001.xls, sheet 3
  • pone.0185396.s001.xls, sheet 5
  • pone.0185396.s001.xls, sheet 2
  • pone.0185396.s001.xls, sheet 4
  • pone.0185396.s001.xls, sheet 6
View BVdb publication page



Findings of a 1303 Korean whole-exome sequencing study.

Experimental & Molecular Medicine
Kwak, Soo Heon SH; Chae, Jeesoo J; Choi, Seongmin S; Kim, Min Jung MJ; Choi, Murim M; Chae, Jong-Hee JH; Cho, Eun-Hae EH; Hwang, Tai Ju TJ; Jang, Se Song SS; Kim, Jong-Il JI; Park, Kyong Soo KS; Bang, Yung-Jue YJ
Publication Date: 2017-07-14

Variant appearance in text: APOB: V4006I; rs183117027
PubMed Link: 28706299
Variant Present in the following documents:
  • emm2017142x4.xls, sheet 1
View BVdb publication page



The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: APOB: 12016G>A; V4006I
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page