Variant ID: 1-55509616-C-A

NM_174936.3(PCSK9):c.308C>A;(p.Ala103Asp)

This variant was identified in 1 publication




Publications:


Self-association of human PCSK9 correlates with its LDLR-degrading activity.

Biochemistry
D Fan, PG Yancey, S Qiu, L Ding, EJ Weeber, MF Linton, S Fazio
Publication Date: 2008-02-12

Variant appearance in text: PCSK9: A103D
PMID: 18197702
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.308C>A p.Ala103Asp missense_variant 2/12 -
ENST00000452118.2 c.308C>A p.Ala103Asp missense_variant 2/6 -
ENST00000543384.1 c.-78+3540C>A - intron_variant - 1/9
NM_174936.4 c.308C>A p.Ala103Asp missense_variant 2/12 -
NR_110451.1 n.182+3540C>A - intron_variant,non_coding_transcript_variant - 1/9