LDLR c.854A>G ;(p.H285R)

Variant ID: 19-11218104-A-G

NM_000527.4(LDLR):c.854A>G;(p.H285R)

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:

cAMP-stimulated transcription of DGKθ requires steroidogenic factor 1 and sterol regulatory element binding protein 1.

Journal Of Lipid Research
Cai, Kai K; Sewer, Marion B MB
Publication Date: 2013-08

Variant appearance in text: LDLR: H285R
PubMed Link: 23610160
Variant Present in the following documents:
  • Main text
View BVdb publication page