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Variant ID: 1-55505623-A-T
NM_174936.3(
PCSK9
):c.113A>T;(p.Tyr38Phe)
This variant was identified in 1 publication
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
Publications:
A transient amphipathic helix in the prodomain of PCSK9 facilitates binding to low-density lipoprotein particles.
The Journal Of Biological Chemistry
SK Sarkar, ACY Foo, A Matyas, I Asikhia, T Kosenko, NK Goto, A Vergara-Jaque, TA Lagace
Publication Date: 2020-01-16
Variant appearance in text: PCSK9: Y38F
PMID:
31949048
View BVdb publication page
Alternative transcript annotations:
Transcript
cDNA
Protein
Consequence
Exon
Intron
ENST00000302118.5
c.113A>T
p.Tyr38Phe
missense_variant
1/12
-
ENST00000452118.2
c.113A>T
p.Tyr38Phe
missense_variant
1/6
-
NM_174936.4
c.113A>T
p.Tyr38Phe
missense_variant
1/12
-