LIPC c.283G>T ;(p.V95L)

Variant ID: 15-58833993-G-T

NM_000236.2(LIPC):c.283G>T;(p.V95L)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology
Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A
Publication Date: 2022

Variant appearance in text: rs6078
PubMed Link: 36582804
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: LIPC: V95L; rs6078
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Remnant-Like Particle Cholesterol, Low-Density Lipoprotein Triglycerides, and Incident Cardiovascular Disease.

Journal Of The American College Of Cardiology
Saeed, Anum A; Feofanova, Elena V EV; Yu, Bing B; Sun, Wensheng W; Virani, Salim S SS; Nambi, Vijay V; Coresh, Josef J; Guild, Cameron S CS; Boerwinkle, Eric E; Ballantyne, Christie M CM; Hoogeveen, Ron C RC
Publication Date: 2018-07-10

Variant appearance in text: rs6078
PubMed Link: 29976289
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs6078
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Macular xanthophylls, lipoprotein-related genes, and age-related macular degeneration.

The American Journal Of Clinical Nutrition
Koo, Euna E; Neuringer, Martha M; SanGiovanni, John Paul JP
Publication Date: 2014-07

Variant appearance in text: rs6078
PubMed Link: 24829491
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of HDL-related loci with age-related macular degeneration and plasma lutein and zeaxanthin: the Alienor study.

Plos One
Merle, Bénédicte M J BM; Maubaret, Cécilia C; Korobelnik, Jean-François JF; Delyfer, Marie-Noëlle MN; Rougier, Marie-Bénédicte MB; Lambert, Jean-Charles JC; Amouyel, Philippe P; Malet, Florence F; Le Goff, Mélanie M; Dartigues, Jean-François JF; Barberger-Gateau, Pascale P; Delcourt, Cécile C
Publication Date: 2013

Variant appearance in text: rs6078
PubMed Link: 24223199
Variant Present in the following documents:
  • Main text
  • pone.0079848.pdf
View BVdb publication page



Candidate gene study of macular response to supplemental lutein and zeaxanthin.

Experimental Eye Research
Yonova-Doing, Ekaterina E; Hysi, Pirro G PG; Venturini, Cristina C; Williams, Katie M KM; Nag, Abhishek A; Beatty, Stephen S; Liew, S H Melissa SH; Gilbert, Clare E CE; Hammond, Christopher J CJ
Publication Date: 2013-10

Variant appearance in text: rs6078
PubMed Link: 23891863
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Genetic determinants of macular pigments in women of the Carotenoids in Age-Related Eye Disease Study.

Investigative Ophthalmology & Visual Science
Meyers, Kristin J KJ; Johnson, Elizabeth J EJ; Bernstein, Paul S PS; Iyengar, Sudha K SK; Engelman, Corinne D CD; Karki, Chitra K CK; Liu, Zhe Z; Igo, Robert P RP; Truitt, Barbara B; Klein, Michael L ML; Snodderly, D Max DM; Blodi, Barbara A BA; Gehrs, Karen M KM; Sarto, Gloria E GE; Wallace, Robert B RB; Robinson, Jennifer J; LeBlanc, Erin S ES; Hageman, Gregory G; Tinker, Lesley L; Mares, Julie A JA
Publication Date: 2013-03-28

Variant appearance in text: rs6078
PubMed Link: 23404124
Variant Present in the following documents:
  • Main text
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: rs6078
PubMed Link: 22229114
Variant Present in the following documents:
  • Main text
View BVdb publication page



Profile of participants and genotype distributions of 108 polymorphisms in a cross-sectional study of associations of genotypes with lifestyle and clinical factors: a project in the Japan Multi-Institutional Collaborative Cohort (J-MICC) Study.

Journal Of Epidemiology
Wakai, Kenji K; Hamajima, Nobuyuki N; Okada, Rieko R; Naito, Mariko M; Morita, Emi E; Hishida, Asahi A; Kawai, Sayo S; Nishio, Kazuko K; Yin, Guang G; Asai, Yatami Y; Matsuo, Keitaro K; Hosono, Satoyo S; Ito, Hidemi H; Watanabe, Miki M; Kawase, Takakazu T; Suzuki, Takeshi T; Tajima, Kazuo K; Tanaka, Keitaro K; Higaki, Yasuki Y; Hara, Megumi M; Imaizumi, Takeshi T; Taguchi, Naoto N; Nakamura, Kazuyo K; Nanri, Hinako H; Sakamoto, Tatsuhiko T; Horita, Mikako M; Shinchi, Koichi K; Kita, Yoshikuni Y; Turin, Tanvir Chowdhury TC; Rumana, Nahid N; Matsui, Kenji K; Miura, Katsuyuki K; Ueshima, Hirotsugu H; Takashima, Naoyuki N; Nakamura, Yasuyuki Y; Suzuki, Sadao S; Ando, Ryosuke R; Hosono, Akihiro A; Imaeda, Nahomi N; Shibata, Kiyoshi K; Goto, Chiho C; Hattori, Nami N; Fukatsu, Mitsuru M; Yamada, Tamaki T; Tokudome, Shinkan S; Takezaki, Toshiro T; Niimura, Hideshi H; Hirasada, Kazuyo K; Nakamura, Akihiko A; Tatebo, Masaya M; Ogawa, Shin S; Tsunematsu, Noriko N; Chiba, Shirabe S; Mikami, Haruo H; Kono, Suminori S; Ohnaka, Keizo K; Takayanagi, Ryoichi R; Watanabe, Yoshiyuki Y; Ozaki, Etsuko E; Shigeta, Masako M; Kuriyama, Nagato N; Yoshikawa, Aya A; Matsui, Daisuke D; Watanabe, Isao I; Inoue, Kaoru K; Ozasa, Kotaro K; Mitani, Satoko S; Arisawa, Kokichi K; Uemura, Hirokazu H; Hiyoshi, Mineyoshi M; Takami, Hidenobu H; Yamaguchi, Miwa M; Nakamoto, Mariko M; Takeda, Hideo H; Kubo, Michiaki M; Tanaka, Hideo H; ,
Publication Date: 2011

Variant appearance in text: rs6078
PubMed Link: 21467728
Variant Present in the following documents:
  • Main text
View BVdb publication page



Disparities in allele frequencies and population differentiation for 101 disease-associated single nucleotide polymorphisms between Puerto Ricans and non-Hispanic whites.

Bmc Genetics
Mattei, Josiemer J; Parnell, Laurence D LD; Lai, Chao-Qiang CQ; Garcia-Bailo, Bibiana B; Adiconis, Xian X; Shen, Jian J; Arnett, Donna D; Demissie, Serkalem S; Tucker, Katherine L KL; Ordovas, Jose M JM
Publication Date: 2009-08-14

Variant appearance in text: rs6078
PubMed Link: 19682384
Variant Present in the following documents:
View BVdb publication page



Diagnostic value of post-heparin lipase testing in detecting common genetic variants in the LPL and LIPC genes.

European Journal Of Human Genetics : Ejhg
van Hoek, Mandy M; Dallinga-Thie, Geesje M GM; Steyerberg, Ewout W EW; Sijbrands, Eric J G EJ
Publication Date: 2009-11

Variant appearance in text: rs6078
PubMed Link: 19367320
Variant Present in the following documents:
  • Main text
View BVdb publication page



The expression of type III hyperlipoproteinemia: involvement of lipolysis genes.

European Journal Of Human Genetics : Ejhg
Henneman, Peter P; van der Sman-de Beer, Femke F; Moghaddam, Payman Hanifi PH; Huijts, Petra P; Stalenhoef, Anton F H AF; Kastelein, John J P JJ; van Duijn, Cornelia M CM; Havekes, Louis M LM; Frants, Rune R RR; van Dijk, Ko Willems KW; Smelt, Augustinus H M AH
Publication Date: 2009-05

Variant appearance in text: rs6078
PubMed Link: 19034316
Variant Present in the following documents:
  • Main text
View BVdb publication page