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PCSK2 c.1202+1120T>C
Variant ID: 20-17438213-T-C
NM_002594.3(
PCSK2
):c.1202+1120T>C
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
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UCSC Genome Browser
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dbSNP
Publications:
Mouse Models of Human Proprotein Convertase Insufficiency.
Endocrine Reviews
Shakya, Manita M; Lindberg, Iris I
Publication Date: 2021-05-25
Variant appearance in text: rs2284912
PubMed Link:
33382413
Variant Present in the following documents:
Main text
View BVdb publication page
Functional analysis of PCSK2 coding variants: A founder effect in the Old Order Amish population.
Diabetes Research And Clinical Practice
Winters, Alexandra A; Ramos-Molina, Bruno B; Jarvela, Timothy S TS; Yerges-Armstrong, Laura L; Pollin, Toni I TI; Lindberg, Iris I
Publication Date: 2017-09
Variant appearance in text: rs2284912
PubMed Link:
28719828
Variant Present in the following documents:
Main text
View BVdb publication page
Genetic polymorphisms of PCSK2 are associated with glucose homeostasis and progression to type 2 diabetes in a Chinese population.
Scientific Reports
Chang, Tien-Jyun TJ; Chiu, Yen-Feng YF; Sheu, Wayne H-H WH; Shih, Kuang-Chung KC; Hwu, Chii-Min CM; Quertermous, Thomas T; Jou, Yuh-Shan YS; Kuo, Shan-Shan SS; Chang, Yi-Cheng YC; Chuang, Lee-Ming LM
Publication Date: 2015-11-26
Variant appearance in text: rs2284912
PubMed Link:
26607656
Variant Present in the following documents:
Main text
srep14380.pdf
View BVdb publication page