LDLR c.1256A>T ;(p.Y419F)

Variant ID: 19-11224023-A-T

NM_000527.4(LDLR):c.1256A>T;(p.Y419F)

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:

The Endocytic Fate of the Transferrin Receptor Is Regulated by c-Abl Kinase.

The Journal Of Biological Chemistry
Cao, Hong H; Schroeder, Barbara B; Chen, Jing J; Schott, Micah B MB; McNiven, Mark A MA
Publication Date: 2016-08-05

Variant appearance in text: LDLR: Y419F
PubMed Link: 27226592
Variant Present in the following documents:
  • Main text
View BVdb publication page