LDLR c.494G>C ;(p.W165S)

Variant ID: 19-11216076-G-C

NM_000527.4(LDLR):c.494G>C;(p.W165S)

This variant was identified in 1 publication

View GRCh38 version.



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

Publications:

Molecular chaperone RAP interacts with LRP1 in a dynamic bivalent mode and enhances folding of ligand-binding regions of other LDLR family receptors.

The Journal Of Biological Chemistry
Marakasova, Ekaterina E; Olivares, Philip P; Karnaukhova, Elena E; Chun, Haarin H; Hernandez, Nancy E NE; Kurasawa, James H JH; Hassink, Gabriela U GU; Shestopal, Svetlana A SA; Strickland, Dudley K DK; Sarafanov, Andrey G AG
Publication Date: 2021-07

Variant appearance in text: LDLR: W165S
PubMed Link: 34058195
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page