LDLRAP1 c.595_596delinsGC ;(p.C199A)

Variant ID: 1-25889623-TG-GC

NM_015627.2(LDLRAP1):c.595_596delinsGC;(p.C199A)

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:

S-nitrosylation of ARH is required for LDL uptake by the LDL receptor.

Journal Of Lipid Research
Zhao, Zhenze Z; Pompey, Shanica S; Dong, Hongyun H; Weng, Jian J; Garuti, Rita R; Michaely, Peter P
Publication Date: 2013-06

Variant appearance in text: ARH: C199A
PubMed Link: 23564733
Variant Present in the following documents:
  • Main text
View BVdb publication page