LDLR c.232_233delinsGC ;(p.R78A)

Variant ID: 19-11213381-CG-GC

NM_000527.4(LDLR):c.232_233delinsGC;(p.R78A)

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:

Function modification of SR-PSOX by point mutations of basic amino acids.

Lipids In Health And Disease
Liu, Weiwei W; Yin, Lan L; Chen, Chunxia C; Dai, Yalei Y
Publication Date: 2011-04-15

Variant appearance in text: LDLR: R78A
PubMed Link: 21492481
Variant Present in the following documents:
  • Main text
  • 1476-511X-10-59.pdf
View BVdb publication page