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LPL c.628C>G ;(p.H210D)
Variant ID: 8-19811717-C-G
NM_000237.2(
LPL
):c.628C>G;(p.H210D)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Identification and functional characterization of a novel heterozygous missense variant in the LPL associated with recurrent hypertriglyceridemia-induced acute pancreatitis in pregnancy.
Molecular Genetics & Genomic Medicine
Shi, Xiao-Lei XL; Yang, Qi Q; Pu, Na N; Li, Xiao-Yao XY; Chen, Wei-Wei WW; Zhou, Jing J; Li, Gang G; Tong, Zhi-Hui ZH; FĂ©rec, Claude C; Cooper, David N DN; Chen, Jian-Min JM; Li, Wei-Qin WQ
Publication Date: 2020-03
Variant appearance in text: LPL: 628C>G; His210Asp
PubMed Link:
31962008
Variant Present in the following documents:
Main text
MGG3-8-e1048.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: H210D
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: H210D
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page