Variant ID: 1-55527053-AG-TT

NM_174936.3(PCSK9):c.1687_1688delinsTT;(p.Ser563Phe)

This variant was identified in 1 publication



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

Publications:

Detection of Marker-Free Precision Genome Editing and Genetic Variation through the Capture of Genomic Signatures.

Cell Reports
P Billon, TS Nambiar, SB Hayward, MP Zafra, EM Schatoff, K Oshima, A Dunbar, M Breinig, YC Park, HS Ryu, DF Tschaharganeh, RL Levine, R Baer, A Ferrando, LE Dow, A Ciccia
Publication Date: 2020-03-10

Variant appearance in text: PCSK9: S563F
PubMed Link: 32160537
PubMed Central Link
Variant Present in the following documents:
  • nihms-1574790.pdf
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1687_1688delinsTT p.Ser563Phe missense_variant 11/12 -
ENST00000490692.1 n.2233_2234delinsTT - non_coding_transcript_exon_variant 7/8 -
ENST00000543384.1 c.*234_*235delinsTT - 3_prime_UTR_variant 9/10 -
NM_174936.4 c.1687_1688delinsTT p.Ser563Phe missense_variant 11/12 -
NR_110451.1 n.1294_1295delinsTT - non_coding_transcript_exon_variant 9/10 -