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LRPPRC c.*556A>G
Variant ID: 2-44115183-T-C
NM_133259.3(
LRPPRC
):c.*556A>G
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:
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: rs1136998
PubMed Link:
31640808
Variant Present in the following documents:
13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page
PINK1-Interacting Proteins: Proteomic Analysis of Overexpressed PINK1.
Parkinson'S Disease
Rakovic, Aleksandar A; Grünewald, Anne A; Voges, Lisa L; Hofmann, Sarah S; Orolicki, Slobodanka S; Lohmann, Katja K; Klein, Christine C
Publication Date: 2011-03-16
Variant appearance in text: rs1136998
PubMed Link:
21437181
Variant Present in the following documents:
Main text
PD2011-153979.pdf
View BVdb publication page
Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.
Nucleic Acids Research
Wang, Wenyi W; Shen, Peidong P; Thiyagarajan, Sreedevi S; Lin, Shengrong S; Palm, Curtis C; Horvath, Rita R; Klopstock, Thomas T; Cutler, David D; Pique, Lynn L; Schrijver, Iris I; Davis, Ronald W RW; Mindrinos, Michael M; Speed, Terence P TP; Scharfe, Curt C
Publication Date: 2011-01
Variant appearance in text: rs1136998
PubMed Link:
20843780
Variant Present in the following documents:
supp_gkq750_NAR-WangWetal-SuppTable-6.xls, sheet 1
View BVdb publication page