Variant ID: 1-55509618-C-T


This variant was identified in 7 publications


Urine-Derived Stem Cells: The Present and the Future.

Stem Cells International
X Ji, M Wang, F Chen, J Zhou
Publication Date: 2017

Variant appearance in text: PCSK9: R104C
PMID: 29250119
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The PCSK9 revolution and the potential of PCSK9-based therapies to reduce LDL-cholesterol.

Global Cardiology Science & Practice
NG Seidah
Publication Date: 2017-03-31

Variant appearance in text: PCSK9: R104C
PMID: 28971102
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tmVar 2.0: integrating genomic variant information from literature with dbSNP and ClinVar for precision medicine.

Bioinformatics (Oxford, England)
CH Wei, L Phan, J Feltz, R Maiti, T Hefferon, Z Lu
Publication Date: 2018-01-01

Variant appearance in text: PCSK9: 310C>T; Arg104Cys
PMID: 28968638
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Urine-sample-derived human induced pluripotent stem cells as a model to study PCSK9-mediated autosomal dominant hypercholesterolemia.

Disease Models & Mechanisms
K Si-Tayeb, S Idriss, B Champon, A Caillaud, M Pichelin, L Arnaud, P Lemarchand, C Le May, K Zibara, B Cariou
Publication Date: 2016-01

Variant appearance in text: PCSK9: R104C
PMID: 26586530
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Plasma PCSK9 concentrations during an oral fat load and after short term high-fat, high-fat high-protein and high-fructose diets.

Nutrition & Metabolism
B Cariou, C Langhi, M Le Bras, M Bortolotti, KA Lê, F Theytaz, C Le May, B Guyomarc'h-Delasalle, Y Zaïr, R Kreis, C Boesch, M Krempf, L Tappy, P Costet
Publication Date: 2013-01-08

Variant appearance in text: PCSK9: R104C
PMID: 23298392
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Loss- and gain-of-function PCSK9 variants: cleavage specificity, dominant negative effects, and low density lipoprotein receptor (LDLR) degradation.

The Journal Of Biological Chemistry
S Benjannet, J Hamelin, M Chrétien, NG Seidah
Publication Date: 2012-09-28

Variant appearance in text: PCSK9: R104C
PMID: 22875854
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Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.

Journal Of Lipid Research
S Calandra, P Tarugi, HE Speedy, AF Dean, S Bertolini, CC Shoulders
Publication Date: 2011-11

Variant appearance in text: PCSK9: R104C
PMID: 21862702
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Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.310C>T p.Arg104Cys missense_variant 2/12 -
ENST00000452118.2 c.310C>T p.Arg104Cys missense_variant 2/6 -
ENST00000543384.1 c.-78+3542C>T - intron_variant - 1/9
NM_174936.4 c.310C>T p.Arg104Cys missense_variant 2/12 -
NR_110451.1 n.182+3542C>T - intron_variant,non_coding_transcript_variant - 1/9