Variant ID: 1-55518422-CTC-GAG

NM_174936.3(PCSK9):c.757_759inv;(p.Leu253Glu)

This variant was identified in 1 publication



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

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: L253E
PMID: 18197702
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.757_759inv p.Leu253Glu missense_variant 5/12 -
ENST00000452118.2 c.*401_*403inv - 3_prime_UTR_variant 6/6 -
ENST00000490692.1 n.1578_1580inv - non_coding_transcript_exon_variant 2/8 -
ENST00000543384.1 c.157_159inv p.Leu53Glu missense_variant 3/10 -
NM_174936.4 c.757_759inv p.Leu253Glu missense_variant 5/12 -
NR_110451.1 n.416_418inv - non_coding_transcript_exon_variant 3/10 -