LPL c.913T>C ;(p.C305R)

Variant ID: 8-19813489-T-C

NM_000237.2(LPL):c.913T>C;(p.C305R)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Variants of Lipolysis-Related Genes in Korean Patients with Very High Triglycerides.

Yonsei Medical Journal
Lee, Chan Joo CJ; Oum, Chi Yoon CY; Lee, Yunbeom Y; Park, Sungha S; Kang, Seok Min SM; Choi, Donghoon D; Jang, Yangsoo Y; Lee, Ji Hyun JH; Lee, Sang Hak SH
Publication Date: 2018-01

Variant appearance in text: LPL: C305R
PubMed Link: 29214790
Variant Present in the following documents:
  • Main text
  • ymj-59-148.pdf
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: LPL: C305R
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: LPL: C305R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: LPL: C305R
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-5.xlsx, sheet 1
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page