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LDLR c.665G>A ;(p.C222Y)
Variant ID: 19-11216247-G-A
NM_000527.4(
LDLR
):c.665G>A;(p.C222Y)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Calibrated rare variant genetic risk scores for complex disease prediction using large exome sequence repositories.
Nature Communications
Lali, Ricky R; Chong, Michael M; Omidi, Arghavan A; Mohammadi-Shemirani, Pedrum P; Le, Ann A; Cui, Edward E; Paré, Guillaume G
Publication Date: 2021-10-06
Variant appearance in text: LDLR: C222Y
PubMed Link:
34615865
Variant Present in the following documents:
41467_2021_26114_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01
Variant appearance in text: LDLR: 665G>A; Cys222Tyr
PubMed Link:
30937429
Variant Present in the following documents:
famiglietti_supplementarytables1_rev_baz040.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: LDLR: C222Y
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page
Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.
Plos Genetics
Thormaehlen, Aenne S AS; Schuberth, Christian C; Won, Hong-Hee HH; Blattmann, Peter P; Joggerst-Thomalla, Brigitte B; Theiss, Susanne S; Asselta, Rosanna R; Duga, Stefano S; Merlini, Pier Angelica PA; Ardissino, Diego D; Lander, Eric S ES; Gabriel, Stacey S; Rader, Daniel J DJ; Peloso, Gina M GM; Pepperkok, Rainer R; Kathiresan, Sekar S; Runz, Heiko H
Publication Date: 2015-02
Variant appearance in text: LDLR: C222Y
PubMed Link:
25647241
Variant Present in the following documents:
Main text
pgen.1004855.pdf
pgen.1004855.s019.xlsx, sheet 1
View BVdb publication page