LIPC c.1437C>G ;(p.T479=)

Variant ID: 15-58860963-C-G

NM_000236.2(LIPC):c.1437C>G;(p.T479=)

This variant was identified in 24 publications

View GRCh38 version.




Publications:


A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER
Publication Date: 2023-03-16

Variant appearance in text: LIPC: T479T
PubMed Link: 36928921
Variant Present in the following documents:
  • ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: rs6074
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
View BVdb publication page



Bacillus Calmette-Guérin Treatment Changes the Tumor Microenvironment of Non-Muscle-Invasive Bladder Cancer.

Frontiers In Oncology
Su, Fei F; Liu, Ming M; Zhang, Wei W; Tang, Min M; Zhang, Jinsong J; Li, Hexin H; Zou, Lihui L; Zhang, Rui R; Liu, Yudong Y; Li, Lin L; Ma, Jie J; Zhang, Yaqun Y; Chen, Meng M; Xiao, Fei F
Publication Date: 2022

Variant appearance in text: LIPC: T479T
PubMed Link: 35311085
Variant Present in the following documents:
  • Table_1.xlsx, sheet 4
View BVdb publication page



Hepatic lipase (LIPC) sequencing in individuals with extremely high and low high-density lipoprotein cholesterol levels.

Plos One
Pirim, Dilek D; Bunker, Clareann H CH; Hokanson, John E JE; Hamman, Richard F RF; Demirci, F Yesim FY; Kamboh, M Ilyas MI
Publication Date: 2020

Variant appearance in text: LIPC: T479T; rs6074
PubMed Link: 33326441
Variant Present in the following documents:
  • Main text
  • pone.0243919.pdf
View BVdb publication page



Genetic modifiers of long-term survival in sickle cell anemia.

Clinical And Translational Medicine
Wonkam, Ambroise A; Chimusa, Emile R ER; Mnika, Khuthala K; Pule, Gift Dineo GD; Ngo Bitoungui, Valentina Josiane VJ; Mulder, Nicola N; Shriner, Daniel D; Rotimi, Charles N CN; Adeyemo, Adebowale A
Publication Date: 2020-08

Variant appearance in text: LIPC: T479T; rs6074
PubMed Link: 32898326
Variant Present in the following documents:
  • CTM2-10-e152-s001.pdf
View BVdb publication page



Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis
Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q
Publication Date: 2020-09

Variant appearance in text: LIPC: T479T; rs6074
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: LIPC: Thr479=; rs6074
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: LIPC: T479T; rs6074
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports
Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS
Publication Date: 2018-12-04

Variant appearance in text: rs6074
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology
Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H
Publication Date: 2018-11-29

Variant appearance in text: rs6074
PubMed Link: 30497413
Variant Present in the following documents:
  • 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine
Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H
Publication Date: 2018-09

Variant appearance in text: LIPC: T479T; rs6074
PubMed Link: 29974678
Variant Present in the following documents:
  • MGG3-6-739-s002.xlsx, sheet 3
  • MGG3-6-739-s002.xlsx, sheet 6
  • MGG3-6-739-s002.xlsx, sheet 2
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: LIPC: T479T; rs6074
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 1
  • oncotarget-08-95841-s002.xlsx, sheet 4
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: LIPC: T479T; rs6074
PubMed Link: 28953935
Variant Present in the following documents:
  • pone.0185396.s001.xls, sheet 1
  • pone.0185396.s001.xls, sheet 2
  • pone.0185396.s001.xls, sheet 3
View BVdb publication page



Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer
Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F
Publication Date: 2017-05-12

Variant appearance in text: LIPC: T479T; rs6074
PubMed Link: 28499365
Variant Present in the following documents:
  • 12885_2017_3314_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: LIPC: T479T; rs6074
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One
Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P
Publication Date: 2014

Variant appearance in text: N/A
PubMed Link: 25333361
Variant Present in the following documents:
View BVdb publication page



TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

Plos One
Ogata, Tsutomu T; Niihori, Tetsuya T; Tanaka, Noriko N; Kawai, Masahiko M; Nagashima, Takeshi T; Funayama, Ryo R; Nakayama, Keiko K; Nakashima, Shinichi S; Kato, Fumiko F; Fukami, Maki M; Aoki, Yoko Y; Matsubara, Yoichi Y
Publication Date: 2014

Variant appearance in text: rs6074
PubMed Link: 24637876
Variant Present in the following documents:
  • pone.0091598.s004.pdf
View BVdb publication page



Joint linkage and association analysis with exome sequence data implicates SLC25A40 in hypertriglyceridemia.

American Journal Of Human Genetics
Rosenthal, Elisabeth A EA; Ranchalis, Jane J; Crosslin, David R DR; Burt, Amber A; Brunzell, John D JD; Motulsky, Arno G AG; Nickerson, Deborah A DA; , ; Wijsman, Ellen M EM; Jarvik, Gail P GP
Publication Date: 2013-12-05

Variant appearance in text: rs6074
PubMed Link: 24268658
Variant Present in the following documents:
  • Main text
View BVdb publication page



Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science
Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K
Publication Date: 2014-02

Variant appearance in text: LIPC: T479T; rs6074
PubMed Link: 24219164
Variant Present in the following documents:
  • cas0105-0202-SD3.xlsx, sheet 1
View BVdb publication page



Association studies of several cholesterol-related genes (ABCA1, CETP and LIPC) with serum lipids and risk of Alzheimer's disease.

Lipids In Health And Disease
Xiao, Zhijie Z; Wang, Juan J; Chen, Weirong W; Wang, Peng P; Zeng, Houlin H; Chen, Weixi W
Publication Date: 2012-11-26

Variant appearance in text: rs6074
PubMed Link: 23181436
Variant Present in the following documents:
  • Main text
  • 1476-511X-11-163.pdf
View BVdb publication page



Common Variants in 6 Lipid-Related Genes Discovered by High-Resolution DNA Melting Analysis and Their Association with Plasma Lipids.

Journal Of Clinical & Experimental Cardiology
Carlquist, John F JF; McKinney, Jason T JT; Horne, Benjamin D BD; Camp, Nicola J NJ; Cannon-Albright, Lisa L; Muhlestein, Joseph B JB; Hopkins, Paul P; Clarke, Jessica L JL; Mower, Chrissa P CP; Park, James J JJ; Nicholas, Zachary P ZP; Huntinghouse, John A JA; Anderson, Jeffrey L JL
Publication Date: 2011-07-10

Variant appearance in text: rs6074
PubMed Link: 22229114
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polymorphisms in the hepatic lipase gene affect plasma HDL-cholesterol levels in a Turkish population.

Journal Of Lipid Research
Hodoglugil, Ugur U; Williamson, David W DW; Mahley, Robert W RW
Publication Date: 2010-02

Variant appearance in text: LIPC: T479T; rs6074
PubMed Link: 19734193
Variant Present in the following documents:
  • Main text
View BVdb publication page



Lack of association of hepatic lipase polymorphisms with late-onset Alzheimer's disease.

Neurobiology Of Aging
Zhu, Haiyan H; Taylor, Jennie W JW; Bennett, David A DA; Younkin, Steven G SG; Estus, Steven S
Publication Date: 2008-05

Variant appearance in text: rs6074
PubMed Link: 17175070
Variant Present in the following documents:
  • Main text
View BVdb publication page