Variant ID: 1-55512238-T-G

NM_174936.3(PCSK9):c.442T>G;(p.Ser148Ala)

This variant was identified in 1 publication



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar

Publications:

The proprotein convertase subtilisin/kexin type 9 (PCSK9) active site and cleavage sequence differentially regulate protein secretion from proteolysis.

The Journal Of Biological Chemistry
JS Chorba, KM Shokat
Publication Date: 2014-10-17

Variant appearance in text: PCSK9: S148A
PMID: 25210046
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.442T>G p.Ser148Ala missense_variant 3/12 -
ENST00000452118.2 c.442T>G p.Ser148Ala missense_variant 3/6 -
ENST00000543384.1 c.-77-5713T>G - intron_variant - 1/9
NM_174936.4 c.442T>G p.Ser148Ala missense_variant 3/12 -
NR_110451.1 n.183-5713T>G - intron_variant,non_coding_transcript_variant - 1/9