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 -