Variant ID: 1-55518378-A-C

NM_174936.3(PCSK9):c.713A>C;(p.Asp238Ala)

This variant was identified in 1 publication



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

Publications:

Identification of a small peptide that inhibits PCSK9 protein binding to the low density lipoprotein receptor.

The Journal Of Biological Chemistry
Y Zhang, C Eigenbrot, L Zhou, S Shia, W Li, C Quan, J Tom, P Moran, P Di Lello, NJ Skelton, M Kong-Beltran, A Peterson, D Kirchhofer
Publication Date: 2014-01-10

Variant appearance in text: PCSK9: D238A
PMID: 24225950
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.713A>C p.Asp238Ala missense_variant 5/12 -
ENST00000452118.2 c.*357A>C - 3_prime_UTR_variant 6/6 -
ENST00000490692.1 n.1534A>C - non_coding_transcript_exon_variant 2/8 -
ENST00000543384.1 c.113A>C p.Asp38Ala missense_variant 3/10 -
NM_174936.4 c.713A>C p.Asp238Ala missense_variant 5/12 -
NR_110451.1 n.372A>C - non_coding_transcript_exon_variant 3/10 -