Variant ID: 12-12318095-TT-TG

NM_002336.2(LRP6):c.1679delinsC;(p.Lys560Thr)

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:

Characterization of the role of EGF-A of low density lipoprotein receptor in PCSK9 binding.

Journal Of Lipid Research
HM Gu, A Adijiang, M Mah, DW Zhang
Publication Date: 2013-12

Variant appearance in text: LRP6: K560M
PubMed Link: 24103783
Variant Present in the following documents:
  • Main text
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000261349.4 c.1679delinsC p.Lys560Thr missense_variant 8/23 -
ENST00000298566.2 c.*25-22143delinsG - intron_variant,NMD_transcript_variant - 5/6
ENST00000538239.1 c.1273delinsC p.Lys425Thr missense_variant,NMD_transcript_variant 7/24 -
ENST00000543091.1 c.1679delinsC p.Lys560Thr missense_variant 8/23 -
NM_002336.3 c.1679delinsC p.Lys560Thr missense_variant 8/23 -