Varaico: Literature-Extracted Genetic Variants

Gene:STAP1
Variant:p.P176S
Back to variants list

STAP1

NM_012108.4:p.P176S

Associated Papers

Genetic and molecular architecture of familial hypercholesterolemia.

Abifadel M et al.

Journal of Internal Medicine, 2023

Screening for Familial Hypercholesterolemia in Small Towns: Experience from 11 Brazilian Towns in the Hipercolbrasil Program.

Jannes CE et al.

Arquivos Brasileiros De Cardiologia, 2022

Taking One Step Back in Familial Hypercholesterolemia: STAP1 Does Not Alter Plasma LDL (Low-Density Lipoprotein) Cholesterol in Mice and Humans.

Loaiza N et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2020

Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Dron JS et al.

Bmc Medical Genomics, 2020

32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4

Predicted pathogenic mutations in STAP1 are not associated with clinically defined familial hypercholesterolemia.

Lamiquiz-Moneo I et al.

Atherosclerosis, 2020

PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.

Guo Q et al.

Frontiers in Genetics, 2020

Genes Potentially Associated with Familial Hypercholesterolemia.

Mikhailova S et al.

Biomolecules, 2019

Evaluation of the role of STAP1 in Familial Hypercholesterolemia.

Danyel M et al.

Scientific Reports, 2019

A rare STAP1 mutation incompletely associated with familial hypercholesterolemia.

Blanco-Vaca F et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2018

Mutations in STAP1 are associated with autosomal dominant hypercholesterolemia.

Fouchier SW et al.

Circulation Research, 2014

25035151 (PubMed )
Supplement: 304660r2_online.pdf
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."