Variant ID: 1-55518398-G-A

NM_174936.3(PCSK9):c.733G>A;(p.Ala245Thr)

This variant was identified in 1 publication




Publications:


Stepwise processing analyses of the single-turnover PCSK9 protease reveal its substrate sequence specificity and link clinical genotype to lipid phenotype.

The Journal Of Biological Chemistry
JS Chorba, AM Galvan, KM Shokat
Publication Date: 2018-02-09

Variant appearance in text: PCSK9: A245T
PMID: 29259136
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.733G>A p.Ala245Thr missense_variant 5/12 -
ENST00000452118.2 c.*377G>A - 3_prime_UTR_variant 6/6 -
ENST00000490692.1 n.1554G>A - non_coding_transcript_exon_variant 2/8 -
ENST00000543384.1 c.133G>A p.Ala45Thr missense_variant 3/10 -
NM_174936.4 c.733G>A p.Ala245Thr missense_variant 5/12 -
NR_110451.1 n.392G>A - non_coding_transcript_exon_variant 3/10 -