Variant ID: 1-55512208-CC-TA

NM_174936.3(PCSK9):c.412_413delinsTA;(p.Pro138Tyr)

This variant was identified in 1 publication



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

Publications:

Loss- and gain-of-function PCSK9 variants: cleavage specificity, dominant negative effects, and low density lipoprotein receptor (LDLR) degradation.

The Journal Of Biological Chemistry
S Benjannet, J Hamelin, M Chrétien, NG Seidah
Publication Date: 2012-09-28

Variant appearance in text: PCSK9: P138Y
PMID: 22875854
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.412_413delinsTA p.Pro138Tyr missense_variant 3/12 -
ENST00000452118.2 c.412_413delinsTA p.Pro138Tyr missense_variant 3/6 -
ENST00000543384.1 c.-77-5743_-77-5742delinsTA - intron_variant - 1/9
NM_174936.4 c.412_413delinsTA p.Pro138Tyr missense_variant 3/12 -
NR_110451.1 n.183-5743_183-5742delinsTA - intron_variant,non_coding_transcript_variant - 1/9